Canonical Allele Identifier: PA113833
Gene: LIPA HGNC NCBI

Linked Data

ClinVar Variation Id: 77
ClinVar RCV Id: RCV000000095 RCV000000096
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121077.1:p.Leu200Pro
CA113832
NM_001127605.3:c.599T>C