Canonical Allele Identifier: PA2579800011
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Pro375Ala
CA410397996
NM_000071.3:c.1123C>G
CA2579805250
NM_000071.3:c.1123_1125delinsGCG
CA2579805251
NM_000071.3:c.1123_1125delinsGCT