Canonical Allele Identifier: PA2826204311
Gene: SPTAN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 802518
ClinVar RCV Id: RCV000988261 RCV002549705
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182461.1:p.His1786Gln
CA375076268
NM_001195532.2:c.5358C>A
CA375076269
NM_001195532.2:c.5358C>G