Canonical Allele Identifier: PA2579796816
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asn225Glu
CA2579811845
NM_000071.3:c.673_675delinsGAG
CA2579813857
NM_000071.3:c.673_675delinsGAA