Allele Registry

Canonical Allele Identifier: PA2579797039

Gene: CBS HGNC NCBI

MaveDb:

Score 0.7249750904

Score 0.7697

Score 0.1851002817

Score 0.2317

HGVS (amino-acid)	Matching Registered Transcripts
NP_000062.1:p.Thr236Leu	CA2579804225 NM_000071.3:c.706_708delinsTTG CA2579804226 NM_000071.3:c.706_708delinsCTG CA2579804227 NM_000071.3:c.706_708delinsCTT CA2579813433 NM_000071.3:c.706_708delinsTTA