Canonical Allele Identifier: PA2499235529
Gene: RYR2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001026.2:p.Asp179Glu
CA345375658
NM_001035.3:c.537T>A
CA345375659
NM_001035.3:c.537T>G