Canonical Allele Identifier: PA2825097205
Gene: LIPA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000226.2:p.Gly311Arg
CA377516535
NM_000235.4:c.931G>C
CA377516536
NM_000235.4:c.931G>A