Allele Registry

Canonical Allele Identifier: PA111509

Gene: KCNQ1 HGNC NCBI

ClinVar RCV:

RCV000057538

RCV000182330

RCV001377773

RCV003162396

ClinVar Variation:

52942

HGVS (amino-acid)	Matching Registered Transcripts
NP_000209.2:p.Ser349Trp	CA005079 NM_000218.3:c.1046C>G