ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826748513
Gene: LIPA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2566142
ClinVar RCV Id:
RCV003306398
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001275908.1:p.Asp162Asn
CA377516776
NM_001288979.2:c.484G>A