Canonical Allele Identifier: PA645413574
Gene: LIPA HGNC NCBI

Linked Data

ClinVar Variation Id: 301573
ClinVar RCV Id: RCV000270478 RCV000596255 RCV000904697
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000226.2:p.Thr337Ala
CA5593532
NM_000235.4:c.1009A>G