ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA113132
Gene: LIPA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000226.2:p.Leu200Pro
NM_000235.4:c.599T>C