Allele Registry

Canonical Allele Identifier: PA2741813953

Gene: NPC1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Asp948Glu	CA401792508 NM_000271.5:c.2844C>G CA401792509 NM_000271.5:c.2844C>A