ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828530597
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40525
ClinVar RCV Id:
RCV000033505
RCV000077860
RCV000824745
RCV001283770
RCV001731328
RCV001813250
RCV002054539
RCV002273940
RCV002444453
RCV003153317
RCV003387505
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361554.1:p.Ile281Val
CA220152
NM_001374625.1:c.841A>G