Canonical Allele Identifier: PA2579794159
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Phe99Val
CA410602020
NM_000071.3:c.295T>G
CA2579805982
NM_000071.3:c.295_297delinsGTT
CA2579805983
NM_000071.3:c.295_297delinsGTG