Canonical Allele Identifier: PA2826133507
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171480.1:p.Leu230Gln
CA410600601
NM_001178009.3:c.689T>A
CA2579813609
NM_001178009.3:c.689_690delinsAA