ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916056655
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_542168.1:p.Ala392Thr
CA357176
NM_080601.3:c.1174G>A