Allele Registry

Canonical Allele Identifier: PA305597

Gene: KCNQ1 HGNC NCBI

ClinVar RCV:

RCV000182108

ClinVar Variation:

200822

HGVS (amino-acid)	Matching Registered Transcripts
NP_000209.2:p.Ser253Phe	CA008099 NM_000218.3:c.758C>T