Canonical Allele Identifier: PA916024457
Gene: CBS HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_001307227.1:p.Pro422Leu
NM_001320298.2:c.1264_1265delinsTT

NM_001320298.2:c.1265C>T

NM_001320298.2:c.1265_1266delinsTC

NM_001320298.2:c.1265_1266delinsTT