ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580107852
Gene: NAGLU
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1957386
ClinVar RCV Id:
RCV002720491
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000254.2:p.Thr339Ile
CA399600416
NM_000263.4:c.1016C>T