Canonical Allele Identifier: PA2579801207
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Thr430Pro
CA410397210
NM_000071.3:c.1288A>C
CA2579803815
NM_000071.3:c.1288_1290delinsCCG
CA2579803817
NM_000071.3:c.1288_1290delinsCCT