ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828530889
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
177887
ClinVar RCV Id:
RCV000154538
RCV000515184
RCV000680301
RCV000690056
RCV002399540
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361554.1:p.Pro560Leu
CA180941
NM_001374625.1:c.1679C>T