Canonical Allele Identifier: PA2827070596
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 420089
ClinVar RCV Id: RCV000482454 RCV003155205 RCV003464007 RCV003495133 RCV004541519
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Cys265Tyr
CA16621012
NM_001321072.1:c.794G>A
CA2579811386
NM_001321072.1:c.794_795delinsAT