Canonical Allele Identifier: PA320827
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 212883
ClinVar RCV Id: RCV000196407 RCV001086812 RCV002277462 RCV002315525 RCV003907714 RCV002229442 RCV003330559
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Lys72Ile
CA320825
NM_000071.3:c.215A>T