ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139680797
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
860398
ClinVar RCV Id:
RCV001066687
RCV002482105
RCV004000162
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Arg2355Gln
CA069098
NM_001042723.2:c.7064G>A