Canonical Allele Identifier: PA2579797167
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gln242Leu
CA410600458
NM_000071.3:c.725A>T
CA2579810913
NM_000071.3:c.725_726delinsTT
CA2579810914
NM_000071.3:c.724_725delinsTT