Canonical Allele Identifier: PA2499255427
Gene: SPTAN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1254403
ClinVar RCV Id: RCV001665328
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001362247.1:p.Asn2318del
CA2579470529
NM_001375318.1:c.6954_6956del