Canonical Allele Identifier: PA109484
Gene: NPC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 8486
ClinVar RCV Id: RCV000009007 RCV001528117
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006423.1:p.Pro120Ser
CA254414
NM_006432.5:c.358C>T