Canonical Allele Identifier: PA2828111373
Gene: SPTAN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1060500
ClinVar RCV Id: RCV001369939
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350688.1:p.Val1854Leu
CA375077231
NM_001363759.2:c.5560G>C
CA375077233
NM_001363759.2:c.5560G>T