Canonical Allele Identifier: PA111484
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 53083
ClinVar RCV Id: RCV000046103 RCV000057730 RCV000182302 RCV001256914 RCV002504939 RCV001841649 RCV003335079 RCV002362677
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000209.2:p.Ser225Leu
CA007870
NM_000218.3:c.674C>T