Canonical Allele Identifier: PA305728
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 52940
ClinVar RCV Id: RCV000045943 RCV000057535
ClinVar Variation Id: 200837
ClinVar RCV Id: RCV000182164 RCV001382717
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_861463.1:p.Gly218Arg
CA005045
NM_181798.1:c.652G>A
CA005053
NM_181798.1:c.652G>C