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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.[Leu242_Gln243del;Leu245_Glu249delinsArgAlaSerSer;Pro251_Tyr254delinsMetArgSerArg;Phe256_Leu259delinsAla;Thr261_Lys265delinsProSer;His267del;Gly269_Ile271del]
CA2499225627
ENST00000264079.11:c.724del