ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305538
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53066
ClinVar RCV Id:
RCV000046081
RCV000057701
RCV000182084
RCV003319310
RCV004017352
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Leu187Pro
CA007460
NM_000218.3:c.560T>C