Canonical Allele Identifier: PA891865182
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Gly2375Arg
CA405668242
NM_000540.3:c.7123G>A
CA405668243
NM_000540.3:c.7123G>C