ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580132651
Gene: SBK1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019572.1:p.Ser257Trp
CA395373570
NM_001024401.3:c.770C>G