ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915967070
Gene: LIPA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
555283
ClinVar RCV Id:
RCV000671074
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121077.1:p.Met1Val