Allele Registry

Canonical Allele Identifier: PA305593

Gene: KCNQ1 HGNC NCBI

ClinVar RCV:

RCV000182107

RCV000678810

ClinVar Variation:

200821

HGVS (amino-acid)	Matching Registered Transcripts
NP_000209.2:p.Ser253Pro	CA008091 NM_000218.3:c.757T>C