ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913194621
Gene: NAGLU
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000254.2:p.Leu682Val
CA399605981
NM_000263.4:c.2044C>G