Allele Registry

Canonical Allele Identifier: PA2579797021

Gene: CBS HGNC NCBI

MaveDb:

Score 0.8392654249

Score 0.4643

Score 0.7419

Score 0.7348903548

HGVS (amino-acid)	Matching Registered Transcripts
NP_000062.1:p.Thr235Asn	CA410600542 NM_000071.3:c.704C>A CA2579804302 NM_000071.3:c.704_705delinsAT