ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828530835
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
265307
ClinVar RCV Id:
RCV000255951
RCV001376031
RCV001330779
RCV001813438
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361554.1:p.Thr506Lys
CA10588540
NM_001374625.1:c.1517C>A