Canonical Allele Identifier: PA2579798282
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asn294Cys
CA2579811799
NM_000071.3:c.880_881delinsTG
CA2579811801
NM_000071.3:c.880_882delinsTGT