Canonical Allele Identifier: PA1139744048
Gene: SPTAN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 953458
ClinVar RCV Id: RCV001225755

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001362247.1:p.Ala2309Ser
CA5265920
NM_001375318.1:c.6925G>T