Allele Registry

Canonical Allele Identifier: PA2827042993

Gene: CBS HGNC NCBI

ClinVar Allele:

422364

ClinVar RCV:

RCV000493781

RCV002231627

ClinVar Variation:

429655

HGVS (amino-acid)	Matching Registered Transcripts
NP_001307227.1:p.Ala114Thr	CA321097898 NM_001320298.2:c.340G>A CA2579813314 NM_001320298.2:c.340_342delinsACT