Allele Registry

Canonical Allele Identifier: PA2830390043

Gene: KCNQ1 HGNC NCBI

ClinVar RCV:

RCV000625723

RCV004010053

ClinVar Variation:

522585

3070021

HGVS (amino-acid)	Matching Registered Transcripts
NP_861463.1:p.Thr185Ser	CA379132966 NM_181798.1:c.553A>T CA379132970 NM_181798.1:c.554C>G