Canonical Allele Identifier: PA2499248489
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1045563
ClinVar RCV Id: RCV002242412 RCV003169729
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Ala8Val
CA410602599
NM_001320298.2:c.23C>T
CA2579812229
NM_001320298.2:c.23_24delinsTG
CA2579812230
NM_001320298.2:c.23_24delinsTT