Canonical Allele Identifier: PA2579798279
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asn294Leu
CA2579811791
NM_000071.3:c.880_882delinsTTA
CA2579811792
NM_000071.3:c.880_882delinsCTG
CA2579811793
NM_000071.3:c.880_882delinsTTG
CA2579811794
NM_000071.3:c.880_881delinsCT
CA2579811795
NM_000071.3:c.880_882delinsCTT