ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100425
Gene: NAGLU
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1567
ClinVar RCV Id:
RCV000001633
RCV001223228
RCV002269255
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000254.2:p.Arg565Trp
CA115050
NM_000263.4:c.1693C>T