ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580108012
Gene: NAGLU
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2143360
ClinVar RCV Id:
RCV003076683
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000254.2:p.Val709Ile
CA8577146
NM_000263.4:c.2125G>A