Canonical Allele Identifier: PA2579800110
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Arg379Cys
CA2579812085
NM_000071.3:c.1135_1137delinsTGT
CA2579812086
NM_000071.3:c.1135_1137delinsTGC