Canonical Allele Identifier: PA2579795400
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Pro2Asn
CA2579805435
NM_000071.3:c.4_6delinsAAC
CA2579805436
NM_000071.3:c.4_5delinsAA