Canonical Allele Identifier: PA2828574582
Gene: SPTAN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 745446
ClinVar RCV Id: RCV000921987
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001362241.2:p.Tyr930Asn
CA375058545
NM_001375312.2:c.2788T>A