Canonical Allele Identifier: PA2826133296
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171480.1:p.Lys72Ile
CA320825
NM_001178009.3:c.215A>T
CA3273288540
NM_001178009.3:c.215_216delinsTC
CA3273288543
NM_001178009.3:c.215_216delinsTT