ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305570
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53086
ClinVar RCV Id:
RCV000057733
RCV000182100
RCV000240642
RCV002362679
RCV003591647
RCV001385527
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Arg104Cys
CA007919
NM_181798.1:c.310C>T