ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580107995
Gene: NAGLU
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2148156
ClinVar RCV Id:
RCV003068709
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000254.2:p.Ser685Thr
CA399606019
NM_000263.4:c.2054G>C