Canonical Allele Identifier: PA2828793753
Gene: LARGE1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365557.1:p.Val648Leu
CA411542587
NM_001378628.1:c.1942G>T
CA411542588
NM_001378628.1:c.1942G>C