Canonical Allele Identifier: PA2826133719
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 340082
ClinVar RCV Id: RCV000396187 RCV002348094
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171480.1:p.Glu400del
CA10644734
NM_001178009.3:c.1200_1202del