ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828530801
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40550
ClinVar RCV Id:
RCV000033536
RCV000157010
RCV000254684
RCV000984919
RCV001813257
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361554.1:p.Pro490Ser
CA261543
NM_001374625.1:c.1468C>T