ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658804619
Gene: NAGLU
HGNC
NCBI
Linked Data
ClinVar Variation Id:
497482
ClinVar RCV Id:
RCV000592453
RCV000652882
RCV001829637
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000254.2:p.Leu496Pro
CA8577035
NM_000263.4:c.1487T>C