Canonical Allele Identifier: PA2579795402
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Pro16Tyr
CA2579805891
NM_000071.3:c.46_47delinsTA
CA2579805892
NM_000071.3:c.46_48delinsTAT