Canonical Allele Identifier: PA2829679507
Gene: SPTBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2849766
ClinVar RCV Id: RCV003687972
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008877.2:p.Pro606Leu
CA381479757
NM_006946.4:c.1817C>T