Canonical Allele Identifier: PA2827070818
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Gly348Arg
CA410396870
NM_001321072.1:c.1042G>C
CA410396871
NM_001321072.1:c.1042G>A