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:
PA305669
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000182141
ClinVar Variation:
200827
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Lys191Thr
CA008890
NM_181798.1:c.572A>C