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Canonical Allele Identifier: Get Identifier
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_001307227.1:p.Gln517Arg
NM_001320298.2:c.1549_1550delinsAG

NM_001320298.2:c.1550A>G

NM_001320298.2:c.1550_1551delinsGA

NM_001320298.2:c.1550_1551delinsGT