Canonical Allele Identifier: PA2827742364
Gene: SH3KBP1 HGNC NCBI
ClinVar RCV:
RCV003700543
ClinVar Variation:
2867083
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340823.1:p.Arg555Gln
CA412495343
NM_001353894.2:c.1664G>A