Canonical Allele Identifier: PA105429
Gene: RYR1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000531.2:p.Arg2676Trp
NM_000540.3:c.8026C>T

NM_000540.3:c.8026C>T