Canonical Allele Identifier: PA2826132628
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 212874

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171479.1:p.Gly85Arg
CA319849
NM_001178008.3:c.253G>A
CA410602117
NM_001178008.3:c.253G>C
CA2579808902
NM_001178008.3:c.253_255delinsAGA