ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828530800
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40552
ClinVar RCV Id:
RCV000033538
RCV000156989
RCV000254685
RCV001002769
RCV001335067
RCV001813258
RCV002504856
RCV004532492
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361554.1:p.Pro490Leu
CA273407
NM_001374625.1:c.1469C>T