Canonical Allele Identifier: PA2579798204
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Glu291Ala
CA410600105
NM_000071.3:c.872A>C
CA2579809975
NM_000071.3:c.872_873delinsCT
CA2579813740
NM_000071.3:c.872_873delinsCC