Canonical Allele Identifier: PA2579796724
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asp221Ile
CA2579811999
NM_000071.3:c.661_662delinsAT
CA2579812000
NM_000071.3:c.661_663delinsATT