Allele Registry

Canonical Allele Identifier: PA111005

Gene: KCNQ1 HGNC NCBI

ClinVar Allele:

67758

ClinVar RCV:

RCV000046110

RCV000057738

RCV000182103

RCV000656159

RCV002371885

RCV003319312

ClinVar Variation:

53090

HGVS (amino-acid)	Matching Registered Transcripts
NP_000209.2:p.Asp242Asn	CA007986 NM_000218.3:c.724G>A