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
ENSP00000269228.4:p.Thr683Ser
CA401771414
ENST00000269228.10:c.2048C>G
CA401771418
ENST00000269228.10:c.2047A>T