ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828530512
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
44609
ClinVar RCV Id:
RCV000037651
RCV001569121
RCV001813330
RCV001852783
RCV002345295
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361554.1:p.Arg185Trp
CA134673
NM_001374625.1:c.553C>T