ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827742692
Gene: SH3KBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2794009
ClinVar RCV Id:
RCV003672575
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340824.1:p.Thr556Ala
CA412495693
NM_001353895.2:c.1666A>G