ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139744615
Gene: MBL2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
865981
ClinVar RCV:
RCV001104674
ClinVar Variation:
878256
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365303.1:p.Gly45Ser
CA5504428
NM_001378374.1:c.133G>A