Canonical Allele Identifier: PA915961646
Gene: RYR1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Gln474His
CA024122
NM_001042723.2:c.1422G>T
CA405686743
NM_001042723.2:c.1422G>C