ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100469
Gene: NAGLU
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000001626
RCV000078455
RCV000817080
ClinVar Variation:
1560
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000254.2:p.Arg674His
CA115042
NM_000263.4:c.2021G>A