Canonical Allele Identifier: PA2579791989
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Thr493Ile
CA2579803754
NM_000071.3:c.1478_1479delinsTC
CA2579803757
NM_000071.3:c.1478_1479delinsTT