ClinGen Allele Registry
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Canonical Allele Identifier:
PA916028165
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40566
ClinVar RCV Id:
RCV000033553
RCV000055888
RCV000210041
RCV000589512
RCV000619738
RCV000679882
RCV000824751
RCV002251945
RCV004545736
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317366.1:p.Gln514Glu
CA273420
NM_001330437.2:c.1540C>G