ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573088259
Gene: NPC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1303422
ClinVar RCV Id:
RCV001757977
RCV002032783
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006423.1:p.Pro88Ser
CA390532463
NM_006432.5:c.262C>T