Canonical Allele Identifier: PA2579796904
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu230Ser
CA2579807690
NM_000071.3:c.688_690delinsAGT
CA2579813605
NM_000071.3:c.688_689delinsTC
CA2579813606
NM_000071.3:c.688_690delinsTCT