Canonical Allele Identifier: PA2826748621
Gene: LIPA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001275908.1:p.His258Gln
CA377516093
NM_001288979.2:c.774T>G
CA377516094
NM_001288979.2:c.774T>A