Canonical Allele Identifier: PA2579796658
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.His218Arg
CA410600779
NM_000071.3:c.653A>G
CA2579808812
NM_000071.3:c.653_654delinsGT
CA2579813678
NM_000071.3:c.653_654delinsGG