Canonical Allele Identifier: PA2826132672
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 188948
ClinVar RCV Id: RCV000169322 RCV001192720 RCV002228611 RCV002453568
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171479.1:p.Arg121His
CA274172
NM_001178008.3:c.362G>A
CA2579812221
NM_001178008.3:c.362_363delinsAT