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: PA328249

Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 67058

ClinVar RCV Id: RCV000057642

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_861463.1:p.Leu475Pro	CA006458 NM_181798.1:c.1424T>C