Canonical Allele Identifier: PA2826133453
Gene: CBS HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171480.1:p.Thr191Lys
CA410601079
NM_001178009.3:c.572C>A