ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825096893
Gene: LIPA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000226.2:p.Val13Ile
CA5593834
NM_000235.4:c.37G>A