ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828530448
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40508
ClinVar RCV Id:
RCV000033485
RCV001002539
RCV001089572
RCV001221785
RCV003333003
RCV003333004
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361554.1:p.Glu109Ala
CA282085
NM_001374625.1:c.326A>C