ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913201419
Gene: SH3BP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
348593
ClinVar RCV Id:
RCV000269056
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139327.1:p.Ser533Cys
CA2819599
NM_001145855.2:c.1598C>G