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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.[Leu237_Asn241delinsArgArgPro;Gln243Thr;Leu245_Glu249delinsArgAlaSerSer;Pro251_Tyr254delinsMetArgSerArg;Phe256_Leu259delinsAla;Thr261_Ala266delinsProSerAlaSer]
CA2587948496
ENST00000264079.11:c.710del