Canonical Allele Identifier: PA2827043093
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 198388
ClinVar RCV Id: RCV000413538 RCV000675172 RCV002228797 RCV004020154
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Asp179_Leu184del
CA247019
NM_001320298.2:c.536_553del