Canonical Allele Identifier: PA111321
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 53108
ClinVar RCV Id: RCV000046131 RCV000057763 RCV000182116 RCV000250332 RCV002483053
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000209.2:p.Leu266Pro
CA008262
NM_000218.3:c.797T>C