Canonical Allele Identifier: PA2573089402
Gene: SPTBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 448523
ClinVar RCV Id: RCV000517005 RCV002525089 RCV002275055
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008877.2:p.Val2246Met
CA6127799
NM_006946.4:c.6736G>A