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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:
CA2765045484
Gene: SLC6A3
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1411163_1411165del , CM000667.2:g.1411163_1411165del
GRCh38
NC_000005.9:g.1411278_1411280del , CM000667.1:g.1411278_1411280del
GRCh37
NC_000005.8:g.1464278_1464280del
NCBI36
NG_015885.1:g.39264_39266del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000270349.12:c.1269+78_1269+80del
MANE Select
ENSP00000270349.9:n.1269+78_1269+80del
ENST00000270349.11:c.1269+78_1269+80del
ENSP00000270349.9:n.1269+78_1269+80del
NM_001044.4:c.1269+78_1269+80del
NP_001035.1:n.1269+78_1269+80del
NM_001044.5:c.1269+78_1269+80del
MANE Select
NP_001035.1:n.1269+78_1269+80del
Search 100 bp 5'
Search 100 bp 3'