ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA116034
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3150
ClinVar RCV Id:
RCV000003300
RCV000057743
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Arg116Pro
CA008027
NM_181798.1:c.347G>C