Canonical Allele Identifier: PA2826748590
Gene: LIPA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001275908.1:p.His228Gln
CA5593522
NM_001288979.2:c.684C>G
CA377516298
NM_001288979.2:c.684C>A