Canonical Allele Identifier: PA2579797234
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asp245Lys
CA2579811492
NM_000071.3:c.733_735delinsAAG
CA2579813828
NM_000071.3:c.733_735delinsAAA