Allele Registry

Canonical Allele Identifier: PA211540

Gene: KCNQ1 HGNC NCBI

ClinVar RCV:

RCV000057582

RCV000148551

RCV000224680

RCV000621439

RCV000764974

RCV001248784

RCV001841631

ClinVar Variation:

52980

HGVS (amino-acid)	Matching Registered Transcripts
NP_861463.1:p.Arg325Trp	CA005672 NM_181798.1:c.973C>T