ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828530411
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40502
ClinVar RCV Id:
RCV000033478
RCV000037639
RCV000254683
RCV000762884
RCV001813246
RCV003150934
ClinVar Variation Id:
40503
ClinVar RCV Id:
RCV000037638
RCV000033479
RCV000856760
RCV000472904
RCV002453282
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361554.1:p.Glu75Asp
CA261577
NM_001374625.1:c.225G>C
CA261580
NM_001374625.1:c.225G>T