ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111228
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
52940
ClinVar RCV Id:
RCV000045943
RCV000057535
ClinVar Variation Id:
200837
ClinVar RCV Id:
RCV000182164
RCV001382717
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Gly345Arg
CA005045
NM_000218.3:c.1033G>A
CA005053
NM_000218.3:c.1033G>C