ClinGen Allele Registry
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Canonical Allele Identifier:
PA100759
Gene: NAGLU
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000254.2:p.Phe48Leu
NM_000263.4:c.142T>C
NM_000263.4:c.144C>A
NM_000263.4:c.144C>G