Canonical Allele Identifier: PA2579795680
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Lys172Val
CA2579806834
NM_000071.3:c.514_516delinsGTT
CA2579806836
NM_000071.3:c.514_515delinsGT