ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913201399
Gene: SH3BP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
348584
ClinVar RCV Id:
RCV000400486
RCV002520236
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139327.1:p.Val409Met
CA2819397
NM_001145855.2:c.1225G>A