ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139681501
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
933321
ClinVar RCV Id:
RCV001201508
RCV002480655
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Leu3003Val
CA405683572
NM_001042723.2:c.9007C>G