Canonical Allele Identifier: PA2580286917
Gene: SPTBN1 HGNC NCBI
ClinVar RCV:
RCV003139153
ClinVar Variation:
2438401
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003119.2:p.Thr59Ser
CA346855188
NM_003128.2:c.175A>T
CA346855193
NM_003128.2:c.176C>G