Allele Registry

Canonical Allele Identifier: PA102945

Gene: NPC1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Phe537Leu	CA401774804 NM_000271.5:c.1611T>G CA401774805 NM_000271.5:c.1611T>A CA401774810 NM_000271.5:c.1609T>C