Canonical Allele Identifier: PA2579795659
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Glu171Val
CA410601333
NM_000071.3:c.512A>T
CA2579810164
NM_000071.3:c.512_513delinsTT