Canonical Allele Identifier: PA2827042987
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 212878
ClinVar RCV Id: RCV000199752 RCV000248928 RCV000535881 RCV000588375 RCV002229441
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Cys109Arg
CA324303
NM_001320298.2:c.325T>C
CA2579811019
NM_001320298.2:c.325_327delinsCGG