ClinGen Allele Registry
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Canonical Allele Identifier:
PA915962904
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
544429
ClinVar RCV Id:
RCV000655566
RCV001766431
RCV002534232
RCV004004149
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Leu3296Val
CA074279
NM_001042723.2:c.9886C>G