Canonical Allele Identifier: PA2741863180
Gene: CBS HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Gly256Val
CA410600333
NM_001320298.2:c.767G>T
CA2579809500
NM_001320298.2:c.767_768delinsTT