ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573165717
Gene: NAGLU
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1444811
ClinVar RCV Id:
RCV001955994
RCV004526886
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000254.2:p.Leu618Pro
CA399605145
NM_000263.4:c.1853T>C