Canonical Allele Identifier: PA2499235569
Gene: RYR2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001026.2:p.Asp1931Glu
CA086975
NM_001035.3:c.5793T>G
CA345407030
NM_001035.3:c.5793T>A