Canonical Allele Identifier: PA2828576323
Gene: SPTAN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1060500
ClinVar RCV Id: RCV001369939
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001362242.1:p.Val1854Leu
CA375077231
NM_001375313.1:c.5560G>C
CA375077233
NM_001375313.1:c.5560G>T