Canonical Allele Identifier: PA110825
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 53058
ClinVar RCV Id: RCV000046072 RCV000057689 RCV000182078 RCV000587627 RCV001841647 RCV002504938 RCV002345338
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000209.2:p.Arg174Cys
CA007321
NM_000218.3:c.520C>T