ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139693926
Gene: LIPA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001275908.1:p.Ser58Phe
CA377517487
NM_001288979.2:c.173C>T