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Canonical Allele Identifier: Get Identifier
Gene: MASP2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000383690.3:p.[Ala481_Gln488delinsGlnLeuLeuMetProSerMetSer;His490_Gly500delinsAsnMetMetHisProProTrp;Leu502_Ser506delinsPheGluTrpAla;His508_Tyr509del]
CA2643225776
ENST00000400897.8:c.1439_1440insCC