Allele Registry

This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.

Canonical Allele Identifier: PA111398

Gene: KCNQ1 HGNC NCBI

ClinVar RCV:

RCV000057825

RCV000182142

ClinVar Variation:

53146

HGVS (amino-acid)	Matching Registered Transcripts
NP_000209.2:p.Lys318Asn	CA008895 NM_000218.3:c.954G>C CA379132994 NM_000218.3:c.954G>T