Canonical Allele Identifier: PA916024422
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 212857
ClinVar RCV Id: RCV000199169 RCV001778782 RCV002228833 RCV003462305
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Ala331Glu
CA323703
NM_001320298.2:c.992C>A