ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA103021
Gene: NPC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000262.2:p.Pro433Leu
CA16620669
NM_000271.5:c.1298C>T