Canonical Allele Identifier: PA2579798335
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Glu297Ser
CA2579810548
NM_000071.3:c.889_891delinsAGT
CA2579810550
NM_000071.3:c.889_891delinsTCT
CA2579810551
NM_000071.3:c.889_890delinsTC