ClinGen Allele Registry
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Canonical Allele Identifier:
PA916056445
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40498
ClinVar RCV Id:
RCV000033469
RCV000037633
RCV000212889
RCV002415446
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542168.1:p.Glu69Gln
CA261565
NM_080601.3:c.205G>C