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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:
CA1522641923
Gene: SLC6A3
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1423873_1423874delinsGC , CM000667.2:g.1423873_1423874delinsGC
GRCh38
NC_000005.9:g.1423988_1423989delinsGC , CM000667.1:g.1423988_1423989delinsGC
GRCh37
NC_000005.8:g.1476988_1476989delinsGC
NCBI36
NG_015885.1:g.26555_26556delinsGC
Transcript Alleles
HGVS
Amino-acid change
ENST00000270349.12:c.654-1860_654-1859delinsGC
MANE Select
ENSP00000270349.9:n.654-1860_654-1859deli...
ENST00000270349.11:c.654-1860_654-1859delinsGC
ENSP00000270349.9:n.654-1860_654-1859deli...
NM_001044.4:c.654-1860_654-1859delinsGC
NP_001035.1:n.654-1860_654-1859delinsGC
NM_001044.5:c.654-1860_654-1859delinsGC
MANE Select
NP_001035.1:n.654-1860_654-1859delinsGC
Search 100 bp 5'
Search 100 bp 3'