ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828530821
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40555
ClinVar RCV Id:
RCV000033541
RCV000037618
RCV000466382
RCV001800333
RCV002260947
RCV004018716
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361554.1:p.Arg500Lys
CA261549
NM_001374625.1:c.1499G>A