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Canonical Allele Identifier: Get Identifier
Gene: MCOLN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000469074.1:p.[Thr77_Phe83delinsArgCysSerSerSerCysLeu;Leu85del;Asn87_Ala90del;Thr92_Thr98del;Ala100_Phe105delinsSerTrp]
CA2573155890
ENST00000601003.1:c.230del