Canonical Allele Identifier: PA2580130260
Gene: RYR1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Phe4923_Phe4924dup
CA2580614898
NM_000540.3:c.14767_14772dup