Canonical Allele Identifier: PA2827741607
Gene: SH3KBP1 HGNC NCBI
ClinVar RCV:
RCV003672575
ClinVar Variation:
2794009
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340821.1:p.Thr596Ala
CA412495693
NM_001353892.2:c.1786A>G