ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827313081
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40520
ClinVar RCV Id:
RCV000037657
RCV000157701
RCV000522926
RCV002496500
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317366.1:p.Leu261Phe
CA235373
NM_001330437.2:c.781C>T