ClinGen Allele Registry
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Canonical Allele Identifier:
PA915962795
Gene: RYR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000210003
RCV000253393
RCV000300656
RCV000357829
RCV000404978
RCV000721732
RCV001086670
ClinVar Variation:
41910
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Met3081Thr
CA024970
NM_001042723.2:c.9242T>C