Canonical Allele Identifier: PA2579796914
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu230Gly
CA2579807696
NM_000071.3:c.688_690delinsGGT
CA2579807697
NM_000071.3:c.688_689delinsGG