Canonical Allele Identifier: PA2825420691
Gene: RYR1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ala2428Ser
CA405669469
NM_001042723.2:c.7282G>T