Canonical Allele Identifier: PA2826132828
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 2680398
ClinVar RCV Id: RCV003460335
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171479.1:p.Leu230Gln
CA410600601
NM_001178008.3:c.689T>A
CA2579813609
NM_001178008.3:c.689_690delinsAA