ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA347040
Gene: LIPA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121077.1:p.Gly87Val
CA347038
NM_001127605.3:c.260G>T