Canonical Allele Identifier: PA2573082549
Gene: SPTBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1315761
ClinVar RCV Id: RCV001755423
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003119.2:p.Arg44Cys
CA346853502
NM_003128.2:c.130C>T