Canonical Allele Identifier: PA915967311
Gene: LIPA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121077.1:p.Arg386Ser
CA5593498
NM_001127605.3:c.1158G>C
CA5593499
NM_001127605.3:c.1158G>T