ClinGen Allele Registry
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Canonical Allele Identifier:
PA915962535
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
590581
ClinVar RCV Id:
RCV000721637
RCV002485827
RCV002535010
RCV003999857
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Ile2358Leu
CA069102
NM_001042723.2:c.7072A>C