Canonical Allele Identifier: PA2828113352
Gene: SPTAN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207376
ClinVar RCV Id: RCV000189551 RCV000464908 RCV001808528 RCV002345681
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350694.1:p.Arg1829Trp
CA318780
NM_001363765.2:c.5485C>T