ClinGen Allele Registry
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Canonical Allele Identifier:
PA191713
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
184694
ClinVar RCV:
RCV000164762
RCV000408787
RCV000494213
RCV000762993
RCV001257532
RCV003162694
RCV003462148
ClinVar Variation:
185354
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Arg1849Gln
CA191710
NM_000267.3:c.5546G>A