ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827312808
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40500
ClinVar RCV Id:
RCV000033472
RCV000037635
RCV001852674
RCV003103718
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317366.1:p.Ala72Pro
CA261571
NM_001330437.2:c.214G>C