ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA306051
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
52929
ClinVar RCV Id:
RCV000057525
RCV000182311
RCV000515709
RCV002336178
RCV002514220
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Phe339Ser
CA004838
NM_000218.3:c.1016T>C