Canonical Allele Identifier: PA2573089360
Gene: SPTBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 448497
ClinVar RCV Id: RCV000516584 RCV000585497 RCV002244993 RCV004023525
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008877.2:p.Glu1241Gly
CA6128793
NM_006946.4:c.3722A>G