Canonical Allele Identifier: PA2825422910
Gene: RYR1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Leu4809Phe
CA024141
NM_001042723.2:c.14425C>T