Canonical Allele Identifier: PA658827072
Gene: LIPA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000226.2:p.Trp95Arg
CA377518045
NM_000235.4:c.283T>C
CA377518046
NM_000235.4:c.283T>A