Canonical Allele Identifier: PA2830375642
Gene: SPTBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 451355
ClinVar RCV Id: RCV000520638
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_842565.2:p.Met74Leu
CA346855663
NM_178313.3:c.220A>T
CA346855667
NM_178313.3:c.220A>C