ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825097201
Gene: LIPA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000226.2:p.Phe308Val
CA5593564
NM_000235.4:c.922T>G