ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305582
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67099
ClinVar RCV Id:
RCV000057739
RCV000182104
RCV000476524
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Asp242Tyr
CA007996
NM_000218.3:c.724G>T