ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828530803
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40551
ClinVar RCV Id:
RCV000033537
RCV000037617
RCV001378165
RCV002490446
RCV001730478
RCV002390130
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361554.1:p.Pro490His
CA261546
NM_001374625.1:c.1469C>A