Canonical Allele Identifier: PA2826132817
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 2153169
ClinVar RCV Id: RCV003085527

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171479.1:p.Arg224His
CA321095515
NM_001178008.3:c.671G>A
CA2579813877
NM_001178008.3:c.671_672delinsAT