ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826798703
Gene: SH2B3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278353.1:p.Glu193Lys
CA6789874
NM_001291424.1:c.577G>A