Canonical Allele Identifier: PA2828575037
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_001362241.2:p.Val1866Leu
CA375077231
NM_001375312.2:c.5596G>C
CA375077233
NM_001375312.2:c.5596G>T