Canonical Allele Identifier: PA113132
Gene: LIPA HGNC NCBI

Linked Data

ClinVar Variation Id: 77
ClinVar RCV Id: RCV000000095 RCV000000096
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000226.2:p.Leu200Pro
CA113832
NM_000235.4:c.599T>C