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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.[Thr232_Gln243delinsPro;Leu245_Tyr254del;Phe256del;Val258_Thr261delinsGly]
CA2587948494
NM_020533.3:c.694del