Canonical Allele Identifier: PA111313
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 53094
ClinVar RCV Id: RCV000057746
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000209.2:p.Leu250His
CA008065
NM_000218.3:c.749T>A