Canonical Allele Identifier: PA2828575279
Gene: SPTAN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001362241.2:p.Gln2316_Gly2318del
CA913184752
NM_001375312.2:c.6946_6954del