ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828530670
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40540
ClinVar RCV Id:
RCV000033523
RCV000763793
RCV003539767
RCV004018712
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361554.1:p.Ser349Ala
CA282111
NM_001374625.1:c.1045T>G