Canonical Allele Identifier: PA2573089390
Gene: SPTBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 305538
ClinVar RCV Id: RCV000306514 RCV003258752 RCV000523983 RCV000660459
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008877.2:p.Arg2081Gln
CA6128006
NM_006946.4:c.6242G>A