Canonical Allele Identifier: PA2579801170
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ile429Ser
CA410397216
NM_000071.3:c.1286T>G
CA2579808129
NM_000071.3:c.1285_1287delinsTCG
CA2579808130
NM_000071.3:c.1285_1287delinsTCA
CA2579808131
NM_000071.3:c.1286_1287delinsGT
CA2579808132
NM_000071.3:c.1285_1287delinsTCT