Canonical Allele Identifier: PA305517
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200813
ClinVar RCV Id: RCV000182074 RCV000988474 RCV001048069 RCV000767090 RCV001842868 RCV003227700 RCV002399648
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_861463.1:p.Val449Ile
CA006291
NM_181798.1:c.1345G>A