ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580108019
Gene: NAGLU
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1982536
ClinVar RCV Id:
RCV002785498
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000254.2:p.Pro736Leu
CA8577158
NM_000263.4:c.2207C>T