Allele Registry

Canonical Allele Identifier: PA102916

Gene: NPC1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Phe1087Leu	CA297079275 NM_000271.5:c.3259T>C CA401791580 NM_000271.5:c.3261C>G CA401791581 NM_000271.5:c.3261C>A