Canonical Allele Identifier: PA218599
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 67038
ClinVar RCV Id: RCV000057596 RCV000543065 RCV001104917 RCV001106072 RCV001104916 RCV000988473 RCV001841670 RCV004537258 RCV004018993
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000209.2:p.Arg519His
CA005923
NM_000218.3:c.1556G>A