ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA350100
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
220078
ClinVar RCV Id:
RCV000206031
RCV000761161
RCV001753612
RCV002317736
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Lys1752Arg
CA350098
NM_001042492.3:c.5255A>G