ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100809
Gene: NAGLU
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1566
ClinVar RCV Id:
RCV000001632
RCV001030807
RCV001043674
RCV001729332
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000254.2:p.Pro521Leu
CA115049
NM_000263.4:c.1562C>T