ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828049787
Gene: SPTB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001342365.1:p.Asp536Asn
CA7231074
NM_001355436.2:c.1606G>A