ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828530572
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40520
ClinVar RCV Id:
RCV000037657
RCV000157701
RCV000522926
RCV002496500
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361554.1:p.Leu260Phe
CA235373
NM_001374625.1:c.778C>T