Canonical Allele Identifier: PA2826748634
Gene: LIPA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001275908.1:p.Arg270Ser
CA5593498
NM_001288979.2:c.810G>C
CA5593499
NM_001288979.2:c.810G>T