Canonical Allele Identifier: PA2579798271
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asn294Ala
CA2579811807
NM_000071.3:c.880_882delinsGCT
CA2579813851
NM_000071.3:c.880_881delinsGC