ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: CBS
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
XP_011528080.1:p.Gln517Arg
XM_011529778.1:c.1549_1550delinsAG
XM_011529778.1:c.1550A>G
XM_011529778.1:c.1550_1551delinsGA
XM_011529778.1:c.1550_1551delinsGT