Canonical Allele Identifier: PA096087
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 125
ClinVar RCV Id: RCV000000147 RCV000469164 RCV001192721 RCV001546787 RCV002227958 RCV002313702
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Arg266Lys
CA113891
NM_000071.3:c.797G>A