ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA220142
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40562
ClinVar RCV Id:
RCV000033549
RCV000077853
RCV000156983
RCV000677652
RCV000762887
RCV001027841
RCV002390132
RCV003991572
RCV004532496
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002825.3:p.Met504Val
CA220140
NM_002834.5:c.1510A>G