Canonical Allele Identifier: PA1139680788
Gene: RYR1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Glu2348del
CA024679
NM_001042723.2:c.7042_7044del