Canonical Allele Identifier: PA2826133833
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 2131335
ClinVar RCV Id: RCV003048157

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171480.1:p.Leu503Val
CA410395733
NM_001178009.3:c.1507C>G
CA2579807065
NM_001178009.3:c.1507_1509delinsGTT