Canonical Allele Identifier: PA2580206288
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 2153169
ClinVar RCV Id: RCV003085527
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Arg224His
CA321095515
NM_001320298.2:c.671G>A
CA2579813877
NM_001320298.2:c.671_672delinsAT