Canonical Allele Identifier: PA2826204323
Gene: SPTAN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207344
ClinVar RCV Id: RCV001040415 RCV001808517 RCV001705052
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182461.1:p.Ala1799Thr
CA318718
NM_001195532.2:c.5395G>A