ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828530672
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40541
ClinVar RCV Id:
RCV000373942
RCV000521244
RCV001582506
RCV002399354
RCV003315540
RCV004541059
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361554.1:p.Arg350Gln
CA282114
NM_001374625.1:c.1049G>A