Canonical Allele Identifier: PA2579796865
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asn228Val
CA2579811808
NM_000071.3:c.682_684delinsGTG
CA2579811809
NM_000071.3:c.682_684delinsGTT