Canonical Allele Identifier: PA2830375633
Gene: SPTBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2438401
ClinVar RCV Id: RCV003139153
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_842565.2:p.Thr46Ser
CA346855188
NM_178313.3:c.136A>T
CA346855193
NM_178313.3:c.137C>G