Canonical Allele Identifier: PA2825202072
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ser3171Arg
CA073741
NM_000540.3:c.9511A>C
CA405688843
NM_000540.3:c.9513T>A
CA405688845
NM_000540.3:c.9513T>G