ClinGen Allele Registry
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Canonical Allele Identifier:
PA100378
Gene: NAGLU
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000254.2:p.Arg482Trp
NM_000263.4:c.1444C>T