Allele Registry

Canonical Allele Identifier: PA111356

Gene: KCNQ1 HGNC NCBI

ClinVar RCV:

RCV000057529

RCV000182312

RCV000617516

RCV000845338

ClinVar Variation:

52932

HGVS (amino-acid)	Matching Registered Transcripts
NP_000209.2:p.Leu342Phe	CA004906 NM_000218.3:c.1024C>T CA2695213189 NM_000218.3:c.1023_1024delinsTT