ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA326345
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53144
ClinVar RCV Id:
RCV000057820
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Gly316Glu
CA008848
NM_000218.3:c.947G>A