Canonical Allele Identifier: PA2826133213
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 212839
ClinVar RCV Id: RCV002354543 RCV002517994 RCV002291590
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171480.1:p.Pro2Leu
CA324871
NM_001178009.3:c.5C>T
CA2579805289
NM_001178009.3:c.5_6delinsTC
CA2579805290
NM_001178009.3:c.4_6delinsTTG
CA2579805291
NM_001178009.3:c.5_6delinsTG
CA2579805292
NM_001178009.3:c.5_6delinsTA