ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573064810
Gene: RYR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Tyr178Cys
CA405677115
NM_001042723.2:c.533A>G