ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580122879
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2099802
ClinVar RCV Id:
RCV003021898
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Ala4216Val
CA085207
NM_001035.3:c.12647C>T