ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827312944
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1024113
ClinVar RCV Id:
RCV001324259
RCV002341673
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317366.1:p.Lys157Arg
CA386781562
NM_001330437.2:c.470A>G