Canonical Allele Identifier: PA2579801192
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Thr430Ala
CA321688049
NM_000071.3:c.1288A>G
CA2579804244
NM_000071.3:c.1288_1290delinsGCT
CA2579804245
NM_000071.3:c.1288_1290delinsGCG