Canonical Allele Identifier: PA2827070360
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Ala183Thr
CA321091505
NM_001321072.1:c.547G>A
CA2579812909
NM_001321072.1:c.547_549delinsACT