Canonical Allele Identifier: PA2579801320
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Glu436Val
CA410397088
NM_000071.3:c.1307A>T
CA2579809884
NM_000071.3:c.1307_1308delinsTT