ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913201388
Gene: SH3BP2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000261336
ClinVar Variation:
348572
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139327.1:p.Ser175Leu
CA2819177
NM_001145855.2:c.524C>T