Canonical Allele Identifier: PA2826132704
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 121

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171479.1:p.Gly139Arg
CA113883
NM_001178008.3:c.415G>A
CA410601731
NM_001178008.3:c.415G>C
CA2579809693
NM_001178008.3:c.415_417delinsAGA