ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825645583
Gene: LIPA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3230712
ClinVar RCV Id:
RCV004522827
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121077.1:p.Arg4Trp
CA377518653
NM_001127605.3:c.10C>T