ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA218599
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000057596
RCV000543065
RCV000988473
RCV001104916
RCV001104917
RCV001106072
RCV001841670
RCV004018993
RCV004537258
ClinVar Variation:
67038
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Arg519His
CA005923
NM_000218.3:c.1556G>A