ClinGen Allele Registry
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Canonical Allele Identifier:
PA915984555
Gene: SH3BP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139328.1:p.Ser513Leu
CA2819496
NM_001145856.2:c.1538C>T