ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826748578
Gene: LIPA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
301573
ClinVar RCV Id:
RCV000270478
RCV000596255
RCV000904697
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001275908.1:p.Thr221Ala
CA5593532
NM_001288979.2:c.661A>G