Allele Registry

Canonical Allele Identifier: PA144948

Gene: KCNQ1 HGNC NCBI

ClinVar RCV:

RCV000003298

RCV000057800

RCV001065918

RCV003996077

ClinVar Variation:

3148

859740

HGVS (amino-acid)	Matching Registered Transcripts
NP_861463.1:p.Val180Leu	CA008654 NM_181798.1:c.538G>C CA379131793 NM_181798.1:c.538G>T