Canonical Allele Identifier: PA2579796546
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ser3Val
CA2579804918
NM_000071.3:c.7_8delinsGT
CA2579804921
NM_000071.3:c.7_9delinsGTG