Canonical Allele Identifier: PA2579800884
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gln415Pro
CA410397396
NM_000071.3:c.1244A>C
CA2579811137
NM_000071.3:c.1244_1245delinsCT