Canonical Allele Identifier: PA2573181423
Gene: LIPA HGNC NCBI

Linked Data

ClinVar Variation Id: 1429812
ClinVar RCV Id: RCV001939120
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121077.1:p.Ser284Pro
CA377516735
NM_001127605.3:c.850T>C