Canonical Allele Identifier: PA916024459
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 212867
ClinVar RCV Id: RCV000197292 RCV000584030 RCV002517170 RCV003462306
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Pro427Leu
CA321746
NM_001320298.2:c.1280C>T
CA2579805633
NM_001320298.2:c.1280_1281delinsTA
CA2579805634
NM_001320298.2:c.1280_1281delinsTT
CA2579805635
NM_001320298.2:c.1279_1280delinsTT
CA2579805636
NM_001320298.2:c.1280_1281delinsTC