Canonical Allele Identifier: PA2579801474
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Phe443Val
CA410397000
NM_000071.3:c.1327T>G
CA2579805608
NM_000071.3:c.1327_1329delinsGTG
CA2579805609
NM_000071.3:c.1327_1329delinsGTT