Canonical Allele Identifier: PA2827740846
Gene: SH3KBP1 HGNC NCBI
ClinVar RCV:
RCV001945472
ClinVar Variation:
1415130
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340819.1:p.Leu531Met
CA10364455
NM_001353890.1:c.1591C>A