ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3082804513
Gene: SH2B1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056318.2:p.Thr484Ser
CA7986211
NM_015503.3:c.1450A>T