ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828530832
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000033550
RCV000049230
RCV000055887
RCV000154371
RCV000157683
RCV001849289
RCV002390133
RCV004541060
RCV004554638
ClinVar Variation:
40563
55799
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361554.1:p.Gln505Pro
CA235331
NM_001374625.1:c.1514A>C
CA284668
NM_001374625.1:c.1514_1515delinsCC