Canonical Allele Identifier: PA2580122405
Gene: RYR2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001026.2:p.Glu2790Asp
CA345401884
NM_001035.3:c.8370A>C
CA345401885
NM_001035.3:c.8370A>T