Canonical Allele Identifier: PA2579797209
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Cys244Thr
CA2579810959
NM_000071.3:c.730_732delinsACG
CA2579813797
NM_000071.3:c.730_731delinsAC