ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825905399
Gene: SH2B1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001621215
ClinVar Variation:
1232867
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139269.1:p.Thr484Ala
CA7986210
NM_001145797.2:c.1450A>G