ClinGen Allele Registry
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Canonical Allele Identifier:
PA915961586
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
133003
ClinVar RCV Id:
RCV000119423
RCV001854576
RCV001588933
RCV003387767
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Arg367Gln
CA023877
NM_001042723.2:c.1100G>A