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: PA2830390061
Gene: KCNQ1 HGNC NCBI
ClinVar RCV:
RCV003044588
ClinVar Variation:
2130527
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_861463.1:p.Gly189Ala
CA379132983
NM_181798.1:c.566G>C