Canonical Allele Identifier: PA2826748551
Gene: LIPA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001275908.1:p.Gly195Arg
CA377516535
NM_001288979.2:c.583G>C
CA377516536
NM_001288979.2:c.583G>A