ClinGen Allele Registry
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Canonical Allele Identifier:
PA913201417
Gene: SH3BP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139327.1:p.Arg516Trp
CA2819558
NM_001145855.2:c.1546C>T