ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827312731
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2921007
ClinVar RCV Id:
RCV003736524
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317366.1:p.Asn58del
CA2739277319
NM_001330437.2:c.173_175del