Canonical Allele Identifier: PA2828609084
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_001362369.1:p.Pro120Ser
CA254414
NM_001375440.1:c.358C>T