ClinGen Allele Registry
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Canonical Allele Identifier:
PA645462973
Gene: NAGLU
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290578
ClinVar RCV Id:
RCV000284729
RCV000765355
RCV001124069
RCV001252583
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000254.2:p.Ala480Thr
CA8577019
NM_000263.4:c.1438G>A