Canonical Allele Identifier: PA2825585968
Gene: SH3BP2 HGNC NCBI
ClinVar RCV:
RCV000269056
ClinVar Variation:
348593
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001116153.1:p.Ser505Cys
CA2819599
NM_001122681.1:c.1514C>G