ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826748417
Gene: LIPA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
528226
ClinVar RCV Id:
RCV000633314
RCV002509479
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001275908.1:p.Arg11Trp
CA5593752
NM_001288979.2:c.31C>T