ClinGen Allele Registry
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_024307908.1:p.Thr130Ser
XM_024452140.1:c.388A>T
XM_024452140.1:c.388_390delinsTCA
XM_024452140.1:c.388_390delinsTCG
XM_024452140.1:c.388_390delinsTCT
XM_024452140.1:c.389C>G
XM_024452140.1:c.389_390delinsGT