ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828530837
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13345
ClinVar RCV Id:
RCV000014273
RCV000414743
RCV000780654
RCV001002770
RCV004018624
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361554.1:p.Gln509Arg
CA256761
NM_001374625.1:c.1526A>G