Canonical Allele Identifier: PA913193883
Gene: LIPA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000226.2:p.Trp15Arg
CA5593833
NM_000235.4:c.43T>C
CA377518586
NM_000235.4:c.43T>A