Canonical Allele Identifier: PA2579796748
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gln222Leu
CA410600729
NM_000071.3:c.665A>T
CA2579810933
NM_000071.3:c.665_666delinsTT
CA2579810934
NM_000071.3:c.664_665delinsTT