Canonical Allele Identifier: PA2579795705
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Met173Thr
CA410601311
NM_000071.3:c.518T>C
CA2579805777
NM_000071.3:c.518_519delinsCT