Canonical Allele Identifier: PA096554
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000062.1:p.Leu539Ser
NM_000071.3:c.1615_1617delinsAGT

NM_000071.3:c.1616T>C

NM_000071.3:c.1616_1617delinsCT