ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828530406
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
477671
ClinVar RCV Id:
RCV000528111
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361554.1:p.Ala74Pro
CA386777884
NM_001374625.1:c.220G>C