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_005258334.1:p.Lys1030Asn
CA401792077
XM_005258277.1:c.3090A>T
CA401792078
XM_005258277.1:c.3090A>C