ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825124754
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
457524
ClinVar RCV Id:
RCV000543779
RCV002316486
RCV003470727
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Arg416Gln
CA398997717
NM_000267.3:c.1247G>A