Allele Registry

Canonical Allele Identifier: PA2573201422

Gene: CBS HGNC NCBI

ClinVar RCV:

RCV002036189

ClinVar Variation:

1522679

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308001.1:p.Ala9Ser	CA321097892 NM_001321072.1:c.25G>T CA2579813316 NM_001321072.1:c.25_27delinsTCT CA2579813317 NM_001321072.1:c.25_27delinsTCA