Canonical Allele Identifier: PA2579800900
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Glu416Leu
CA2579809914
NM_000071.3:c.1246_1247delinsTT
CA2579809915
NM_000071.3:c.1246_1247delinsCT