ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA306098
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53019
ClinVar RCV Id:
RCV000046032
RCV000057638
RCV000182324
RCV000620919
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Arg594Pro
CA006395
NM_000218.3:c.1781G>C