ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825097323
Gene: LIPA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000226.2:p.Ile369Thr
CA5593508
NM_000235.4:c.1106T>C