Canonical Allele Identifier: PA2573089265
Gene: SPTBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 305568
ClinVar RCV Id: RCV000346859 RCV000882266 RCV001289200 RCV001786359
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008877.2:p.Arg1039Gln
CA6128931
NM_006946.4:c.3116G>A