Canonical Allele Identifier: PA252559
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3115
ClinVar RCV Id: RCV000003262 RCV000057797 RCV000182132
ClinVar Variation Id: 67123
ClinVar RCV Id: RCV000057798 RCV003159095 RCV003317071
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_861463.1:p.Gly179Arg
CA008634
NM_181798.1:c.535G>A
CA008640
NM_181798.1:c.535G>C