ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA123880
Gene: MBL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14350
ClinVar RCV Id:
RCV000015424
RCV002274880
RCV001777138
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000233.1:p.Gly54Asp
CA123877
NM_000242.3:c.161G>A