Canonical Allele Identifier: PA2579792099
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Arg498Ile
CA2579811874
NM_000071.3:c.1493_1494delinsTT
CA2579811875
NM_000071.3:c.1493_1494delinsTA
CA2579811876
NM_000071.3:c.1493_1494delinsTC