ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA110990
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53017
ClinVar RCV Id:
RCV000057636
RCV000505785
RCV000678914
RCV001388792
RCV002399408
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Arg591His
CA006369
NM_000218.3:c.1772G>A