Canonical Allele Identifier: PA2579800979
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ser420Ala
CA410397346
NM_000071.3:c.1258T>G
CA2579805405
NM_000071.3:c.1258_1260delinsGCG
CA2579805407
NM_000071.3:c.1258_1260delinsGCT