ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828530633
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
372668
ClinVar RCV Id:
RCV000412738
RCV000701867
RCV002318367
RCV002481274
RCV004544723
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361554.1:p.Met310Val
CA6798676
NM_001374625.1:c.928A>G