Canonical Allele Identifier: PA110859
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 53092
ClinVar RCV Id: RCV000057742 RCV001807770 RCV002381343 RCV001385528 RCV001841652 RCV004542713 RCV003482908
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000209.2:p.Arg243His
CA008018
NM_000218.3:c.728G>A