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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.[Asp40_Tyr47delinsThrPheAlaValValSerAsnThr;Phe49_Met50del;Pro52_Gln69del]
CA2580097069
NM_020533.3:c.117del