Canonical Allele Identifier: PA2827070548
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Ala250Val
CA321689840
NM_001321072.1:c.749C>T
CA2579812865
NM_001321072.1:c.749_750delinsTA
CA2579812866
NM_001321072.1:c.749_750delinsTT