Canonical Allele Identifier: PA2579798284
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asn294Glu
CA2579811800
NM_000071.3:c.880_882delinsGAG
CA2579813850
NM_000071.3:c.880_882delinsGAA