ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828530811
Gene: PTPN11
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
49024
ClinVar RCV:
RCV000033540
RCV000055886
RCV000212896
RCV000494687
RCV000626828
RCV000824748
RCV001813260
ClinVar Variation:
40554
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361554.1:p.Arg497Leu
CA273434
NM_001374625.1:c.1490G>T