ClinGen Allele Registry
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Canonical Allele Identifier:
PA191714
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
185354
ClinVar RCV Id:
RCV000164762
RCV000408787
RCV000494213
RCV000762993
RCV001257532
RCV003462148
RCV003162694
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Arg1870Gln
CA191710
NM_001042492.3:c.5609G>A