Canonical Allele Identifier: PA915962430
Gene: RYR1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Asp2129Glu
CA024575
NM_001042723.2:c.6387C>G
CA405663818
NM_001042723.2:c.6387C>A