ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825422388
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1395905
ClinVar RCV Id:
RCV001887299
RCV003365521
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Ser4404Gly
CA405674465
NM_001042723.2:c.13210A>G