Allele Registry

Canonical Allele Identifier: PA2826133339

Gene: CBS HGNC NCBI

ClinVar RCV:

RCV002036189

ClinVar Variation:

1522679

HGVS (amino-acid)	Matching Registered Transcripts
NP_001171480.1:p.Ala114Ser	CA321097892 NM_001178009.3:c.340G>T CA2579813316 NM_001178009.3:c.340_342delinsTCT CA2579813317 NM_001178009.3:c.340_342delinsTCA