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Canonical Allele Identifier: Get Identifier
Gene: MCOLN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000264079.5:p.[Phe290_Arg298del;Leu300_Leu307del;Cys309_Ser310del;Ser312_Phe313del;Leu315_Ala317del;Ser319_Arg322del]
CA645617281
ENST00000264079.11:c.869_870insAACGTGA