Canonical Allele Identifier: PA305848
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 53003
ClinVar RCV Id: RCV000046012 RCV000057614 RCV000182212 RCV000619418 RCV003591637 RCV002483049 RCV003319308
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_861463.1:p.Arg428His
CA006147
NM_181798.1:c.1283G>A