Canonical Allele Identifier: PA2579796991
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000062.1:p.Asp234Ala
NM_000071.3:c.701A>C

NM_000071.3:c.701_702delinsCG

NM_000071.3:c.701_702delinsCT