ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828530823
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40556
ClinVar RCV Id:
RCV000033542
RCV000212898
RCV001731329
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361554.1:p.Ser501Ala
CA273454
NM_001374625.1:c.1501T>G