ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100323
Gene: NAGLU
HGNC
NCBI
Linked Data
ClinVar Variation Id:
521840
ClinVar RCV Id:
RCV000622512
RCV002285379
RCV002531908
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000254.2:p.Ala664Val
CA8577127
NM_000263.4:c.1991C>T