ClinGen Allele Registry
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Canonical Allele Identifier:
PA645493195
Gene: MASP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
291786
ClinVar RCV Id:
RCV000396976
RCV000454761
RCV001683170
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006601.2:p.Asp371Tyr
CA586789
NM_006610.4:c.1111G>T