ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA356044
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_000258.1:p.Lys1731Arg
CA350098
NM_000267.3:c.5192A>G