Canonical Allele Identifier: PA913201391
Gene: SH3BP2 HGNC NCBI
ClinVar RCV:
RCV000320509
ClinVar Variation:
348576
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001139327.1:p.Pro194Leu
CA2819192
NM_001145855.2:c.581C>T