ClinGen Allele Registry
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Canonical Allele Identifier:
PA326068
Gene: KCNQ1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
67625
ClinVar RCV:
RCV000057553
RCV002514222
ClinVar Variation:
52957
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Arg239Pro
CA005270
NM_181798.1:c.716G>C