Canonical Allele Identifier: PA2579796930
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ala231Thr
CA410600592
NM_000071.3:c.691G>A
CA2579812994
NM_000071.3:c.691_693delinsACC
CA2579813030
NM_000071.3:c.691_693delinsACA