Canonical Allele Identifier: PA2826133305
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 2566665
ClinVar RCV Id: RCV003306666

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171480.1:p.Ile84Thr
CA410602121
NM_001178009.3:c.251T>C
CA2579813643
NM_001178009.3:c.251_252delinsCA