Canonical Allele Identifier: PA2828576328
Gene: SPTAN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3169490
ClinVar RCV Id: RCV004465369
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001362242.1:p.Gln1862His
CA375077395
NM_001375313.1:c.5586G>C
CA375077398
NM_001375313.1:c.5586G>T