Allele Registry

Canonical Allele Identifier: PA2579797031

Gene: CBS HGNC NCBI

MaveDb:

Score 0.5924006908

Score 0.5414

Score 0.4107

Score 0.4706721341

HGVS (amino-acid)	Matching Registered Transcripts
NP_000062.1:p.Thr236Ser	CA410600531 NM_000071.3:c.707C>G CA410600535 NM_000071.3:c.706A>T CA2579804219 NM_000071.3:c.706_708delinsTCG CA2579813432 NM_000071.3:c.706_708delinsTCT