Allele Registry

Canonical Allele Identifier: PA102934

Gene: NPC1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Phe1224Leu	CA401790671 NM_000271.5:c.3672C>G CA401790672 NM_000271.5:c.3672C>A CA401790677 NM_000271.5:c.3670T>C