Canonical Allele Identifier: PA2579795094
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Cys15Val
CA2579810986
NM_000071.3:c.43_45delinsGTG
CA2579810987
NM_000071.3:c.43_45delinsGTT