This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: NPC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_006722542.1:p.Phe1104Leu
CA297079275
XM_006722479.3:c.3310T>C
CA401791580
XM_006722479.3:c.3312C>G
CA401791581
XM_006722479.3:c.3312C>A