Canonical Allele Identifier: PA915967203
Gene: LIPA HGNC NCBI

Linked Data

ClinVar Variation Id: 301576
ClinVar RCV Id: RCV000287212 RCV000887810 RCV000478562 RCV001705448 RCV002392837 RCV004544508
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121077.1:p.Ile252Leu
CA5593621
NM_001127605.3:c.754A>T
CA377516963
NM_001127605.3:c.754A>C