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Canonical Allele Identifier: Get Identifier
Gene: MCOLN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065394.1:p.[Phe290_Arg298del;Leu300_Leu307del;Cys309_Ser319del]
CA645617281
NM_020533.3:c.869_870insAACGTGA