Canonical Allele Identifier: PA2579800145
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Tyr381Ile
CA2579803431
NM_000071.3:c.1141_1142delinsAT
CA2579803433
NM_000071.3:c.1141_1143delinsATT