ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827312822
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
477671
ClinVar RCV Id:
RCV000528111
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317366.1:p.Ala75Pro
CA386777884
NM_001330437.2:c.223G>C