Canonical Allele Identifier: PA2579796729
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asp221Asn
CA410600749
NM_000071.3:c.661G>A
CA2579812006
NM_000071.3:c.661_663delinsAAT