Canonical Allele Identifier: PA305725
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 52936
ClinVar RCV Id: RCV000057534 RCV000223824 RCV001384422 RCV002381340 RCV002470738 RCV003591636
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_861463.1:p.Ala217Val
CA004967
NM_181798.1:c.650C>T