ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139744619
Gene: MBL2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365303.1:p.Thr164Pro
CA5504302
NM_001378374.1:c.490A>C