Canonical Allele Identifier: PA2579801632
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asp450Pro
CA2579811686
NM_000071.3:c.1348_1349delinsCC
CA2579811687
NM_000071.3:c.1348_1350delinsCCG