Canonical Allele Identifier: PA2741824181
Gene: RYR2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001026.2:p.Asp4646Glu
CA345418616
NM_001035.3:c.13938C>A
CA345418617
NM_001035.3:c.13938C>G