Canonical Allele Identifier: PA321748
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 212867

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Pro427Leu
CA321746
NM_000071.3:c.1280C>T
CA2579805633
NM_000071.3:c.1280_1281delinsTA
CA2579805634
NM_000071.3:c.1280_1281delinsTT
CA2579805635
NM_000071.3:c.1279_1280delinsTT
CA2579805636
NM_000071.3:c.1280_1281delinsTC