Canonical Allele Identifier: PA2827741610
Gene: SH3KBP1 HGNC NCBI
ClinVar RCV:
RCV003721527
ClinVar Variation:
2842545
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340821.1:p.Glu600Asp
CA412495664
NM_001353892.2:c.1800G>T
CA412495665
NM_001353892.2:c.1800G>C