ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913201392
Gene: SH3BP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
348581
ClinVar RCV Id:
RCV000346025
RCV003950228
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139327.1:p.Asp247Val
CA2819290
NM_001145855.2:c.740A>T