ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573064795
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1330356
ClinVar RCV Id:
RCV001803449
RCV002544389
RCV003994332
RCV004009069
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Arg2593Gly
CA405672067
NM_001042723.2:c.7777C>G