Canonical Allele Identifier: PA2580147012
Gene: RYR1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Leu2623Phe
CA405673763
NM_001042723.2:c.7869G>C
CA405673776
NM_001042723.2:c.7869G>T