ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825133147
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_000258.1:p.Ile2275_Leu2280del
CA2255603150
NM_000267.3:c.6823_6840del