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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.[Gln79_Ala90delinsHisHisTyrAlaHisPro;Thr92_Ile99delinsTrp;Phe101_Gly108delinsGln]
CA2587946778
NM_020533.3:c.236_237insCCATTAT