Canonical Allele Identifier: PA232095
Gene: RYR1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Gly248Arg
CA024797
NM_000540.3:c.742G>A
CA024799
NM_000540.3:c.742G>C