ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139681635
Gene: NPC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000262.2:p.Ile439Val
CA297069382
NM_000271.5:c.1315A>G