Allele Registry

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.

Canonical Allele Identifier: PA645468508

Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 405259

ClinVar RCV Id: RCV000465460

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_861463.1:p.Val38dup	CA16613558 NM_181798.1:c.112_114dup