ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645294412
Gene: PTPN11
HGNC
NCBI
Linked Data - Other
Linked-Data Service Error:
Error
Failed to retrieve aggregated linked-data
Status
NodeJS Error object: timeout of 3500ms exceeded
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542168.1:p.Glu139Asp
CA177671
NM_080601.3:c.417G>C
CA261590
NM_080601.3:c.417G>T