Canonical Allele Identifier: PA096443
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 188801
ClinVar RCV Id: RCV000169132 RCV000197584 RCV000780082 RCV002390401 RCV002228607
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gly347Ser
CA273978
NM_000071.3:c.1039G>A