Canonical Allele Identifier: PA2579795763
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Glu176Ser
CA2579810073
NM_000071.3:c.526_528delinsAGT
CA2579810074
NM_000071.3:c.526_527delinsTC
CA2579810075
NM_000071.3:c.526_528delinsTCT