ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094935
Gene: SPTB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000338.3:p.Leu2025Arg
NM_000347.5:c.6074T>G