ClinGen Allele Registry
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Canonical Allele Identifier:
PA658682450
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
457750
ClinVar RCV Id:
RCV000547255
RCV002314936
RCV002476109
RCV001597159
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Ile1782Val
CA399009225
NM_001042492.3:c.5344A>G