Canonical Allele Identifier: PA305518
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200813
ClinVar RCV Id: RCV000182074 RCV000988474 RCV001048069 RCV000767090 RCV001842868 RCV003227700 RCV002399648
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000209.2:p.Val576Ile
CA006291
NM_000218.3:c.1726G>A