Canonical Allele Identifier: PA2499230652
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1066113
ClinVar RCV Id: RCV001377029
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Pro424Ser
CA401777299
NM_000271.5:c.1270C>T
CA645600335
NM_000271.5:c.1269_1270delinsTT