ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580110342
Gene: NPC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1999767
ClinVar RCV Id:
RCV002819844
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000262.2:p.Glu1089Gly
CA401791569
NM_000271.5:c.3266A>G