ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111026
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53039
ClinVar RCV Id:
RCV000057664
RCV000182262
RCV001368545
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Cys122Tyr
CA006889
NM_000218.3:c.365G>A