ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828530704
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
224093
ClinVar RCV Id:
RCV000209886
RCV001853345
RCV002261008
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361554.1:p.Ala391Thr
CA357176
NM_001374625.1:c.1171G>A