ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580514989
Gene: MASP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2213064
ClinVar RCV Id:
RCV004077743
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_631947.1:p.Asp75His
CA587229
NM_139208.3:c.223G>C