Allele Registry

Canonical Allele Identifier: PA326280

Gene: KCNQ1 HGNC NCBI

ClinVar Allele:

67780

ClinVar RCV:

RCV000239632

RCV001346356

RCV001588868

ClinVar Variation:

53112

HGVS (amino-acid)	Matching Registered Transcripts
NP_861463.1:p.Phe148del	CA008360 NM_181798.1:c.443_445del