ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA326186
Gene: KCNQ1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000057686
RCV003319309
ClinVar Variation:
53055
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Thr42Arg
CA007290
NM_181798.1:c.125C>G