Canonical Allele Identifier: PA2828102952
Gene: NPC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1303422

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350617.1:p.Pro88Ser
CA390532463
NM_001363688.1:c.262C>T