Canonical Allele Identifier: PA2828074280
Gene: LARGE1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349882.1:p.Val697Leu
CA411542587
NM_001362953.2:c.2089G>T
CA411542588
NM_001362953.2:c.2089G>C