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Canonical Allele Identifier: Get Identifier
Gene: MASP2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000514717.1:p.[Gly412Glu;Gln414del;Ala416_Gln424delinsArgGlnAsnLeu;Leu426_Ile427delinsIlePhe;Gly430_Asn441delinsLysSer]
CA521453539
ENST00000699958.1:c.1235del