ClinGen Allele Registry
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Canonical Allele Identifier:
PA915962970
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
42098
ClinVar RCV Id:
RCV000034925
RCV000147397
RCV000233916
RCV000401146
RCV000529599
RCV003996181
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Cys3402Gly
CA023822
NM_001042723.2:c.10204T>G