ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573166501
Gene: NPC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1464171
ClinVar RCV Id:
RCV001961286
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000262.2:p.Val133Leu
CA401785169
NM_000271.5:c.397G>C