Canonical Allele Identifier: PA2573088259
Gene: NPC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1303422

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006423.1:p.Pro88Ser
CA390532463
NM_006432.5:c.262C>T