ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139668413
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
983021
ClinVar RCV Id:
RCV001262825
RCV002436982
RCV002541598
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Thr96Arg
CA379117270
NM_000218.3:c.287C>G