Canonical Allele Identifier: PA913193898
Gene: LIPA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000226.2:p.His344Gln
CA5593522
NM_000235.4:c.1032C>G
CA377516298
NM_000235.4:c.1032C>A