Canonical Allele Identifier: PA2579798380
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Thr299Ala
CA410600055
NM_000071.3:c.895A>G
CA2579804100
NM_000071.3:c.895_897delinsGCT
CA2579804101
NM_000071.3:c.895_897delinsGCG