Canonical Allele Identifier: PA2828795992
Gene: LARGE1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365560.1:p.Glu392_Tyr400delinsAsp
CA2402343722
NM_001378631.1:c.1176_1199del