Canonical Allele Identifier: PA2827742350
Gene: SH3KBP1 HGNC NCBI
ClinVar RCV:
RCV003721527
ClinVar Variation:
2842545
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340823.1:p.Glu541Asp
CA412495664
NM_001353894.2:c.1623G>T
CA412495665
NM_001353894.2:c.1623G>C