Canonical Allele Identifier: PA322519
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asp133Asn
CA322517
NM_000071.3:c.397G>A
CA2579811550
NM_000071.3:c.397_399delinsAAT