ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829679666
Gene: SPTBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2585599
ClinVar RCV Id:
RCV003338216
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008877.2:p.Ala1031Thr
CA6128938
NM_006946.4:c.3091G>A