ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580109911
Gene: NPC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1935171
ClinVar RCV Id:
RCV002623015
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000262.2:p.Glu127Gln
CA401785320
NM_000271.5:c.379G>C