ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828530739
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40545
ClinVar RCV Id:
RCV000033528
RCV001725940
RCV001852677
RCV001813255
RCV001818207
RCV004018713
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361554.1:p.Val427Met
CA282120
NM_001374625.1:c.1279G>A