Canonical Allele Identifier: PA2579797036
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Thr236Phe
CA2579804222
NM_000071.3:c.706_708delinsTTT
CA2579804223
NM_000071.3:c.706_707delinsTT