Canonical Allele Identifier: PA306987
Gene: RYR2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001026.2:p.Gln2754His
CA010917
NM_001035.3:c.8262G>C
CA39805242
NM_001035.3:c.8262G>T