ClinGen Allele Registry
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Canonical Allele Identifier:
PA915984536
Gene: SH3BP2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000293867
RCV001261155
ClinVar Variation:
280675
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139328.1:p.Pro475Ser
CA10602925
NM_001145856.2:c.1423C>T