Canonical Allele Identifier: PA645383566
Gene: NPC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 314239

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006423.1:p.Lys71Arg
CA7268167
NM_006432.5:c.212A>G