Canonical Allele Identifier: PA2579799693
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ala360Thr
CA410398157
NM_000071.3:c.1078G>A
CA2579812833
NM_000071.3:c.1078_1080delinsACA
CA2579812835
NM_000071.3:c.1078_1080delinsACG