ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828530607
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1327572
ClinVar RCV Id:
RCV001789834
RCV002034638
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361554.1:p.His286Pro
CA386790444
NM_001374625.1:c.857A>C