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: MBL2
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001365303.1:p.Lys49Ter
NM_001378374.1:c.[141del;144C>G;146A>T]
NM_001378374.1:c.[141del;144C>G;146A>T;14...
NM_001378374.1:c.145A>T
