Allele Registry

Canonical Allele Identifier: PA645499927

Gene: CBS HGNC NCBI

MaveDb:

Score 0.6368336602

Score 0.8059

Score 0.7758757091

Score 0.3535

ClinVar Allele:

422364

ClinVar RCV:

RCV000493781

RCV002231627

ClinVar Variation:

429655

HGVS (amino-acid)	Matching Registered Transcripts
NP_000062.1:p.Ala114Thr	CA321097898 NM_000071.3:c.340G>A CA2579813314 NM_000071.3:c.340_342delinsACT