Canonical Allele Identifier: PA2579796905
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu230Ala
CA2579807702
NM_000071.3:c.688_689delinsGC
CA2579807703
NM_000071.3:c.688_690delinsGCT