Canonical Allele Identifier: PA915966148
Gene: RYR2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001026.2:p.Glu3750Asp
CA084880
NM_001035.3:c.11250A>C
CA345427110
NM_001035.3:c.11250A>T