Canonical Allele Identifier: PA915967288
Gene: LIPA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121077.1:p.His344Gln
CA5593522
NM_001127605.3:c.1032C>G
CA377516298
NM_001127605.3:c.1032C>A