Canonical Allele Identifier: PA2579796907
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu230Arg
CA410600599
NM_000071.3:c.689T>G
CA2579807700
NM_000071.3:c.689_690delinsGT
CA2579807701
NM_000071.3:c.688_689delinsAG