ClinGen Allele Registry
Allele Registry
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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:
PA2499229844
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001365655
ClinVar Variation:
1056776
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Asp317Ala
CA379132985
NM_000218.3:c.950A>C