Canonical Allele Identifier: PA096724
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000062.1:p.Ser466Leu
NM_000071.3:c.1396_1397delinsCT

NM_000071.3:c.1397C>T

NM_000071.3:c.1397_1398delinsTA