Canonical Allele Identifier: PA2827742647
Gene: SH3KBP1 HGNC NCBI
ClinVar RCV:
RCV001945472
ClinVar Variation:
1415130
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340824.1:p.Leu516Met
CA10364455
NM_001353895.2:c.1546C>A