ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825585673
Gene: SH3BP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
348572
ClinVar RCV Id:
RCV000261336
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001116153.1:p.Ser147Leu
CA2819177
NM_001122681.1:c.440C>T