ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139739235
Gene: SPTB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001342366.1:p.Thr2040Ile
CA390039382
NM_001355437.2:c.6119C>T