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: PA328269

Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 67073

ClinVar RCV Id: RCV000057675 RCV000463475 RCV000489920 RCV000618499

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_861463.1:p.Thr17Ala	CA007072 NM_181798.1:c.49A>G