Canonical Allele Identifier: PA2825690918
Gene: SPTAN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3169490
ClinVar RCV Id: RCV004465369
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123910.1:p.Gln1862His
CA375077395
NM_001130438.3:c.5586G>C
CA375077398
NM_001130438.3:c.5586G>T