Canonical Allele Identifier: PA2828575264
Gene: SPTAN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1254403
ClinVar RCV Id: RCV001665328
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001362241.2:p.Asn2297del
CA2579470529
NM_001375312.2:c.6891_6893del