Canonical Allele Identifier: PA173583
Gene: SPTAN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 139302
ClinVar RCV Id: RCV000128263 RCV000466233 RCV001808379 RCV002312943 RCV003430701 RCV004551230
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123910.1:p.Ala1851Val
CA173582
NM_001130438.3:c.5552C>T