Canonical Allele Identifier: PA2573252407
Gene: SPTBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1400522
ClinVar RCV Id: RCV001911370
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008877.2:p.Ser613Leu
CA6129237
NM_006946.4:c.1838C>T