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: PA2825089941
Gene: KCNQ1 HGNC NCBI
ClinVar RCV:
RCV003044588
ClinVar Variation:
2130527
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000209.2:p.Gly316Ala
CA379132983
NM_000218.3:c.947G>C