Canonical Allele Identifier: PA2828577597
Gene: SPTAN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1934475
ClinVar RCV Id: RCV002638733
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001362243.1:p.Glu1839Ala
CA375077337
NM_001375314.2:c.5516A>C