ClinGen Allele Registry
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Canonical Allele Identifier:
PA177673
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40512
ClinVar RCV Id:
RCV000033490
RCV000212894
RCV000824742
RCV000995621
RCV001267275
ClinVar Variation Id:
40513
ClinVar RCV Id:
RCV000033491
RCV000077858
RCV000357736
RCV000521568
RCV000515221
RCV000617179
RCV000585988
RCV000626830
RCV000824741
RCV001003604
RCV001813249
RCV003147306
RCV003147307
RCV004528153
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002825.3:p.Glu139Asp
CA177671
NM_002834.5:c.417G>C
CA261590
NM_002834.5:c.417G>T