Canonical Allele Identifier: PA916024371
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 212883
ClinVar RCV Id: RCV000196407 RCV001086812 RCV002277462 RCV002315525 RCV003907714 RCV002229442 RCV003330559
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Lys72Ile
CA320825
NM_001320298.2:c.215A>T