ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829142256
Gene: SH2B1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001374333.1:p.Glu251Gln
CA395424503
NM_001387404.1:c.751G>C