ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913197588
Gene: SH2B3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
619973
ClinVar RCV Id:
RCV000760171
RCV000760174
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005466.1:p.Glu395Lys
CA6789874
NM_005475.3:c.1183G>A