Canonical Allele Identifier: PA232085
Gene: RYR1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000531.2:p.Glu2439Asp
NM_000540.3:c.7317G>C

NM_000540.3:c.7317G>T