ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA220154
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40525
ClinVar RCV Id:
RCV000033505
RCV000077860
RCV000824745
RCV001283770
RCV001731328
RCV001813250
RCV002054539
RCV002273940
RCV002444453
RCV003153317
RCV003387505
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002825.3:p.Ile282Val
CA220152
NM_002834.5:c.844A>G