Canonical Allele Identifier: PA2826748539
Gene: LIPA HGNC NCBI

Linked Data

ClinVar Variation Id: 430634
ClinVar RCV Id: RCV000494734 RCV001865556
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001275908.1:p.Gln182His
CA377516636
NM_001288979.2:c.546G>T
CA377516637
NM_001288979.2:c.546G>C