Canonical Allele Identifier: PA337737
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 216774
ClinVar RCV Id: RCV000198221 RCV000609376 RCV001252105 RCV001331387 RCV001847903 RCV002363018
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079413.3:p.Phe2378Leu
CA337736
NM_025137.4:c.7132T>C
CA392212336
NM_025137.4:c.7134T>G
CA392212338
NM_025137.4:c.7134T>A