Canonical Allele Identifier: PA2573252503
Gene: SPTBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1424510
ClinVar RCV Id: RCV001921716
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008877.2:p.Arg1507Gln
CA6128547
NM_006946.4:c.4520G>A