ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826748532
Gene: LIPA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001275908.1:p.His179Pro
CA377516661
NM_001288979.2:c.536A>C