Allele Registry

Canonical Allele Identifier: PA102924

Gene: NPC1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Phe1167Leu	CA401791050 NM_000271.5:c.3501C>G CA401791051 NM_000271.5:c.3501C>A CA401791056 NM_000271.5:c.3499T>C