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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.[Lys450_Asp455delinsArgGlnAsnLeuValIle;Pro457_Val460del;Ile462_Leu463del;Gly465_Leu479delinsLysSer]
CA17883090
ENST00000400897.8:c.1349del