ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827742302
Gene: SH3KBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1415130
ClinVar RCV Id:
RCV001945472
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340823.1:p.Leu497Met
CA10364455
NM_001353894.2:c.1489C>A