Canonical Allele Identifier: PA2579796998
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asp234Lys
CA2579811528
NM_000071.3:c.700_702delinsAAA
CA2579811529
NM_000071.3:c.700_702delinsAAG