ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499236798
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1065119
ClinVar RCV Id:
RCV001580410
RCV002051719
RCV001871976
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Cys2237Tyr
CA405666261
NM_001042723.2:c.6710G>A