Canonical Allele Identifier: PA2579800463
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Glu40Gly
CA410602405
NM_000071.3:c.119A>G
CA2579809930
NM_000071.3:c.119_120delinsGA
CA2579809931
NM_000071.3:c.119_120delinsGT