Canonical Allele Identifier: PA2828577594
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_001362243.1:p.Val1834Leu
CA375077231
NM_001375314.2:c.5500G>C
CA375077233
NM_001375314.2:c.5500G>T