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: PA328250

Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 67058

ClinVar RCV Id: RCV000057642

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_000209.2:p.Leu602Pro