Allele Registry

Canonical Allele Identifier: PA2580110260

Gene: NPC1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Phe924Leu	CA401792674 NM_000271.5:c.2772T>G CA401792675 NM_000271.5:c.2772T>A CA401792680 NM_000271.5:c.2770T>C