Allele Registry

Canonical Allele Identifier: PA326249

Gene: KCNQ1 HGNC NCBI

ClinVar RCV:

RCV000576986

ClinVar Variation:

53093

HGVS (amino-acid)	Matching Registered Transcripts
NP_000209.2:p.Trp248Phe	CA008044 NM_000218.3:c.743_744delinsTC