Canonical Allele Identifier: PA2828577833
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_001362243.1:p.Trp2279Arg
CA375098483
NM_001375314.2:c.6835T>A
CA375098491
NM_001375314.2:c.6835T>C