Canonical Allele Identifier: PA306964
Gene: RYR2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001026.2:p.Trp4949Arg
CA008433
NM_001035.3:c.14845T>C
CA345410836
NM_001035.3:c.14845T>A