ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825422848
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1494403
ClinVar RCV Id:
RCV001989320
RCV004011090
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Leu4764Val
CA405684969
NM_001042723.2:c.14290C>G