Canonical Allele Identifier: PA320195
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 212843
ClinVar RCV Id: RCV000460928 RCV000726351 RCV001252179 RCV002315523 RCV003993881 RCV002517995
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Arg132Cys
CA320193
NM_000071.3:c.394C>T
CA2579812185
NM_000071.3:c.394_396delinsTGT