Canonical Allele Identifier: PA2825097336
Gene: LIPA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000226.2:p.His374Gln
CA377516093
NM_000235.4:c.1122T>G
CA377516094
NM_000235.4:c.1122T>A