Canonical Allele Identifier: PA305662
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 53142
ClinVar RCV Id: RCV000057818 RCV000182139 RCV001368547 RCV003327365
ClinVar Variation Id: 53143
ClinVar RCV Id: RCV000057819
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_861463.1:p.Gly189Arg
CA008823
NM_181798.1:c.565G>A
CA008832
NM_181798.1:c.565G>C