Canonical Allele Identifier: PA2825691478
Gene: SPTAN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1184129
ClinVar RCV Id: RCV001542087
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123910.1:p.Trp2299Arg
CA375098483
NM_001130438.3:c.6895T>A
CA375098491
NM_001130438.3:c.6895T>C