Allele Registry

Canonical Allele Identifier: PA2741813957

Gene: NPC1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Ser1082Arg	CA401791615 NM_000271.5:c.3246T>G CA401791616 NM_000271.5:c.3246T>A CA401791633 NM_000271.5:c.3244A>C