ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA110945
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67041
ClinVar RCV Id:
RCV000057603
RCV000234802
RCV000456908
RCV001841671
RCV002223181
RCV003162437
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Arg533Trp
CA005979
NM_000218.3:c.1597C>T