ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741852483
Gene: SH2B1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001295223.1:p.Glu66Gly
CA395394336
NM_001308294.2:c.197A>G