Canonical Allele Identifier: PA2573089333
Gene: SPTBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 488611
ClinVar RCV Id: RCV000578450 RCV000992843 RCV001815002
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008877.2:p.Leu626Pro
CA381479527
NM_006946.4:c.1877T>C