Canonical Allele Identifier: PA2741822888
Gene: RYR2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001026.2:p.His2000Gln
CA087017
NM_001035.3:c.6000T>G
CA345408318
NM_001035.3:c.6000T>A