Canonical Allele Identifier: PA2579793534
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ala69Ile
CA2579812438
NM_000071.3:c.205_206delinsAT
CA2579812439
NM_000071.3:c.205_207delinsATT