ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913201415
Gene: SH3BP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
348590
ClinVar RCV Id:
RCV000264563
RCV002520237
RCV003480615
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139327.1:p.Ser484Leu
CA2819496
NM_001145855.2:c.1451C>T