ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA326242
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53089
ClinVar RCV Id:
RCV000057736
RCV002371884
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Leu239Pro
CA007953
NM_000218.3:c.716T>C