Canonical Allele Identifier: PA305524
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 53058
ClinVar RCV Id: RCV000046072 RCV000057689 RCV000182078 RCV000587627 RCV001841647 RCV002504938 RCV002345338
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_861463.1:p.Arg47Cys
CA007321
NM_181798.1:c.139C>T