ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499236873
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
999989
ClinVar RCV Id:
RCV001296060
RCV003135922
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.His1662Arg
CA405652847
NM_001042723.2:c.4985A>G