Canonical Allele Identifier: PA2827070317
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 120
ClinVar RCV Id: RCV000000141 RCV000000142 RCV000078111 RCV000173640 RCV000781197 RCV001252178 RCV002310621 RCV002276525 RCV003128384
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Ile173Thr
CA113880
NM_001321072.1:c.518T>C
CA2579808229
NM_001321072.1:c.518_519delinsCG