ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100433
Gene: NAGLU
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000001631
RCV001030808
RCV001214750
RCV001579503
ClinVar Variation:
1565
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000254.2:p.Arg643Cys
CA115048
NM_000263.4:c.1927C>T