ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA113833
Gene: LIPA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001121077.1:p.Leu200Pro
NM_001127605.3:c.599T>C