ClinGen Allele Registry
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Canonical Allele Identifier:
PA913195875
Gene: SPTBN2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008877.1:p.Arg2370His
CA6127635
NM_006946.3:c.7109G>A