Canonical Allele Identifier: PA2579794295
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu105Gly
CA2579808287
NM_000071.3:c.313_315delinsGGT
CA2579808289
NM_000071.3:c.313_315delinsGGG