ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828530812
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40553
ClinVar RCV Id:
RCV000033539
RCV000055885
RCV000254686
RCV000722171
RCV000824747
RCV001813259
RCV002490447
RCV004018715
RCV004532493
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361554.1:p.Arg497Trp
CA273451
NM_001374625.1:c.1489C>T