ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573177082
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1510675
ClinVar RCV Id:
RCV002043131
RCV002324483
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Gln1395Arg
CA398997535
NM_001042492.3:c.4184A>G