ClinGen Allele Registry
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Canonical Allele Identifier:
PA645493184
Gene: MASP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
20249
ClinVar RCV:
RCV000005520
RCV000239142
RCV003237411
RCV003974799
ClinVar Variation:
5210
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_631947.1:p.Asp120Gly
CA117337
NM_139208.3:c.359A>G