Canonical Allele Identifier: PA2579794605
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asp120Val
CA410601869
NM_000071.3:c.359A>T
CA2579811572
NM_000071.3:c.359_360delinsTG
CA2579813845
NM_000071.3:c.359_360delinsTT