ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825337529
Gene: SPTB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001020029.1:p.Ala2023Val
CA7229762
NM_001024858.4:c.6068C>T