Allele Registry

Canonical Allele Identifier: PA2579797038

Gene: CBS HGNC NCBI

MaveDb:

Score 0.3490818328

Score 0.9231575666

Score 0.9603

Score 0.4728

HGVS (amino-acid)	Matching Registered Transcripts
NP_000062.1:p.Thr236Ile	CA321095438 NM_000071.3:c.707C>T CA2579813434 NM_000071.3:c.707_708delinsTT CA2579813435 NM_000071.3:c.707_708delinsTA