ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828530655
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
280410
ClinVar RCV Id:
RCV000377606
RCV000792044
RCV003278730
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361554.1:p.Gln334Pro
CA10603230
NM_001374625.1:c.1001A>C