ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580200150
Gene: LIPA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001275908.1:p.Ala88Val
CA5593676
NM_001288979.2:c.263C>T