ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828530413
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
181496
ClinVar RCV Id:
RCV000159045
RCV001813410
RCV002288669
RCV002281971
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361554.1:p.Glu75Gln
CA297076
NM_001374625.1:c.223G>C