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.Met1056Ile
CA401791901
XM_006722479.3:c.3168G>T
CA401791902
XM_006722479.3:c.3168G>A
CA401791903
XM_006722479.3:c.3168G>C