Canonical Allele Identifier: PA2830375790
Gene: SPTBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1507791
ClinVar RCV Id: RCV002013634
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_842565.2:p.Lys914Arg
CA346886389
NM_178313.3:c.2741A>G