Canonical Allele Identifier: PA2579794398
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Glu110Leu
CA2579810826
NM_000071.3:c.328_329delinsCT
CA2579810827
NM_000071.3:c.328_330delinsCTT
CA2579810828
NM_000071.3:c.328_329delinsTT