Allele Registry

Canonical Allele Identifier: PA2579797048

Gene: CBS HGNC NCBI

MaveDb:

Score 0.8904266811

Score 0.4192

Score 0.1678

Score 0.5021774614

HGVS (amino-acid)	Matching Registered Transcripts
NP_000062.1:p.Thr236Met	CA2579804224 NM_000071.3:c.707_708delinsTG