Canonical Allele Identifier: PA102727
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2960
ClinVar RCV Id: RCV000003094 RCV000020230 RCV000723413
ClinVar Variation Id: 539309
ClinVar RCV Id: RCV000649019 RCV000728621
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Gly992Trp
CA115895
NM_000271.5:c.2974G>T
CA658799013
NM_000271.5:c.2973_2974delinsAT