Canonical Allele Identifier: PA2828577599
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_001362243.1:p.Gln1842His
CA375077395
NM_001375314.2:c.5526G>C
CA375077398
NM_001375314.2:c.5526G>T