ClinGen Allele Registry
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Canonical Allele Identifier:
PA235333
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40563
ClinVar RCV Id:
RCV000033550
RCV000055887
RCV000154371
RCV000157683
RCV001849289
RCV002390133
RCV004554638
RCV004541060
ClinVar Variation Id:
55799
ClinVar RCV Id:
RCV000049230
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002825.3:p.Gln506Pro
CA235331
NM_002834.5:c.1517A>C
CA284668
NM_002834.5:c.1517_1518delinsCC