Allele Registry

Canonical Allele Identifier: PA2579794484

Gene: CBS HGNC NCBI

MaveDb:

Score 0.8671848014

Score 0.0797

Score 0.6553752897

Score 0.5909

HGVS (amino-acid)	Matching Registered Transcripts
NP_000062.1:p.Ala114Gly	CA321097886 NM_000071.3:c.341C>G CA2579813325 NM_000071.3:c.341_342delinsGT