ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573089262
Gene: SPTBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1329497
ClinVar RCV Id:
RCV001799573
RCV002034671
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008877.2:p.Ala632Val
CA6129226
NM_006946.4:c.1895C>T