ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100717
Gene: NAGLU
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000254.2:p.Leu682Arg
CA399605985
NM_000263.4:c.2045T>G