Canonical Allele Identifier: PA2579794122
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Lys97Thr
CA410602034
NM_000071.3:c.290A>C
CA2579805828
NM_000071.3:c.290_291delinsCT