ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828530370
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000151684
RCV000157700
RCV001219186
RCV002490444
RCV003985264
RCV004532484
ClinVar Variation:
40490
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361554.1:p.Gly59Ser
CA235370
NM_001374625.1:c.175G>A