ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826748592
Gene: LIPA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001275908.1:p.Asp229Asn
CA377516297
NM_001288979.2:c.685G>A