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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.[Ile240_Gln243delinsArgAlaSer;Leu245del;Asn247_Tyr254delinsMetArgSerArg;Phe256_Leu259delinsAla;Thr261_Lys265delinsProSer;His267del;Gly269_Pro272del]
CA2576597015
NM_020533.3:c.719_728del