Canonical Allele Identifier: PA2826133359
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 197625
ClinVar RCV Id: RCV000178709 RCV000723426 RCV001804908 RCV002228790
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171480.1:p.Arg125Gln
CA275291
NM_001178009.3:c.374G>A