ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499236416
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1003143
ClinVar RCV Id:
RCV001299663
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Ile2296_Leu2301del
CA2255603150
NM_001042492.3:c.6886_6903del