Canonical Allele Identifier: PA2579794223
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Lys102Val
CA2579806857
NM_000071.3:c.304_306delinsGTT
CA2579806858
NM_000071.3:c.304_305delinsGT