ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828530392
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
44603
ClinVar RCV Id:
RCV000037634
RCV000206837
RCV000405696
RCV002464090
RCV003313932
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361554.1:p.Lys69Arg
CA261568
NM_001374625.1:c.206A>G