ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826748536
Gene: LIPA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198700
ClinVar RCV Id:
RCV000180114
RCV003165377
RCV002516811
RCV004539691
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001275908.1:p.Ser181Gly
CA247503
NM_001288979.2:c.541A>G