Canonical Allele Identifier: PA2827070463
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 371028
ClinVar RCV Id: RCV000410016 RCV000780081 RCV001000797 RCV001861384
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Val215Ala
CA16041998
NM_001321072.1:c.644T>C
CA2579803168
NM_001321072.1:c.644_645delinsCT