ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825645674
Gene: LIPA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121077.1:p.Ser174Phe
CA377517487
NM_001127605.3:c.521C>T