Canonical Allele Identifier: PA2579796810
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asn225Leu
CA2579811838
NM_000071.3:c.673_675delinsTTG
CA2579811840
NM_000071.3:c.673_675delinsCTT