Canonical Allele Identifier: PA324873
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 212839

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Pro2Leu
CA324871
NM_000071.3:c.5C>T
CA2579805289
NM_000071.3:c.5_6delinsTC
CA2579805290
NM_000071.3:c.4_6delinsTTG
CA2579805291
NM_000071.3:c.5_6delinsTG
CA2579805292
NM_000071.3:c.5_6delinsTA