Canonical Allele Identifier: PA305612
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 53101
ClinVar RCV Id: RCV000046124 RCV000057756 RCV000182113 RCV001814031 RCV001813753 RCV000709733 RCV002408548 RCV001841653 RCV001843471
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000209.2:p.Arg259His
CA008184
NM_000218.3:c.776G>A