Canonical Allele Identifier: PA2579801219
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Cys431Thr
CA2579810948
NM_000071.3:c.1291_1293delinsACG
CA2579810949
NM_000071.3:c.1291_1292delinsAC