Canonical Allele Identifier: PA1139696493
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 340082
ClinVar RCV Id: RCV000396187 RCV002348094
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Glu400del
CA10644734
NM_001320298.2:c.1200_1202del