Canonical Allele Identifier: PA2579801641
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Glu451Ala
CA410396888
NM_000071.3:c.1352A>C
CA2579809806
NM_000071.3:c.1352_1353delinsCT