ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580110052
Gene: NPC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2138971
ClinVar RCV Id:
RCV003070711
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000262.2:p.Ala427Gly
CA401777250
NM_000271.5:c.1280C>G