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Canonical Allele Identifier: Get Identifier
Gene: MASP2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000514792.1:p.[Ala473_Gln480delinsGlnLeuLeuMetProSerMetSer;His482_Gly492delinsAsnMetMetHisProProTrp;Leu494_Ser498delinsPheGluTrpAla;His500_Tyr501del]
CA2643225776
ENST00000700093.1:c.1415_1416insCC