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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1522623657
Gene: SLC6A3
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1411072_1411073delinsGC , CM000667.2:g.1411072_1411073delinsGC
GRCh38
NC_000005.9:g.1411187_1411188delinsGC , CM000667.1:g.1411187_1411188delinsGC
GRCh37
NC_000005.8:g.1464187_1464188delinsGC
NCBI36
NG_015885.1:g.39356_39357delinsGC
Transcript Alleles
HGVS
Amino-acid Change
ENST00000270349.12:c.1269+170_1269+171delinsGC
MANE Select
ENSP00000270349.9:n.1269+170_1269+171delinsGC
ENST00000270349.11:c.1269+170_1269+171delinsGC
ENSP00000270349.9:n.1269+170_1269+171delinsGC
NM_001044.4:c.1269+170_1269+171delinsGC
NP_001035.1:n.1269+170_1269+171delinsGC
NM_001044.5:c.1269+170_1269+171delinsGC
MANE Select
NP_001035.1:n.1269+170_1269+171delinsGC
Search 100 bp 5'
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