Canonical Allele Identifier: PA2827043076
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 127
ClinVar RCV Id: RCV000000150 RCV000179250 RCV000458159 RCV002227959 RCV002310622 RCV002265542 RCV004540986
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Val168Met
CA113895
NM_001320298.2:c.502G>A