ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645294418
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
181766
ClinVar RCV Id:
RCV000159507
RCV000519427
RCV002381524
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542168.1:p.Arg343Gln
CA297648
NM_080601.3:c.1028G>A