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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.[Gly439Glu;Gln441del;Ala443_Gln451delinsArgGlnAsnLeu;Leu453_Ile454delinsIlePhe;Gly457_Asn468delinsLysSer]
CA521453539
ENST00000700093.1:c.1316del