ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915984375
Gene: SH3BP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139328.1:p.Arg215Trp
CA2819186
NM_001145856.2:c.643C>T