Canonical Allele Identifier: PA2579795796
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Lys177Pro
CA2579806820
NM_000071.3:c.529_531delinsCCT
CA2579806821
NM_000071.3:c.529_530delinsCC