Canonical Allele Identifier: PA2579801480
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Phe443Gly
CA2579805623
NM_000071.3:c.1327_1328delinsGG
CA2579805624
NM_000071.3:c.1327_1329delinsGGG
CA2579805625
NM_000071.3:c.1327_1329delinsGGT