Canonical Allele Identifier: PA2825423106
Gene: RYR1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Phe4918_Phe4919dup
CA2580614898
NM_001042723.2:c.14752_14757dup