ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA210955
Gene: SPTB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001020029.1:p.Arg1756Ter
NM_001024858.4:c.5266C>T