ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305530
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
200814
ClinVar RCV Id:
RCV000182080
RCV001852299
RCV003319329
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Arg174Leu
CA007345
NM_000218.3:c.521G>T