ClinGen Allele Registry
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Canonical Allele Identifier:
PA915984517
Gene: SH3BP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7551
ClinVar RCV Id:
RCV000007987
RCV003886359
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139328.1:p.Arg472Gln
CA254210
NM_001145856.2:c.1415G>A