Canonical Allele Identifier: PA2499255428
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_001362247.1:p.Trp2332Arg
CA375098483
NM_001375318.1:c.6994T>A
CA375098491
NM_001375318.1:c.6994T>C