Canonical Allele Identifier: PA2579795748
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ser175Thr
CA410601295
NM_000071.3:c.523T>A
CA2579804688
NM_000071.3:c.523_525delinsACG
CA2579804689
NM_000071.3:c.523_525delinsACT