ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139744615
Gene: MBL2
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001365303.1:p.Gly45Ser
NM_001378374.1:c.133G>A