ClinGen Allele Registry
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Canonical Allele Identifier:
PA915962628
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
133210
ClinVar RCV Id:
RCV000056060
RCV000119725
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Leu2550Val
CA024842
NM_001042723.2:c.7648C>G