ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825129807
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
231506
ClinVar RCV Id:
RCV000223634
RCV000812956
RCV001762486
RCV003462465
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Arg1590Gln
CA10580329
NM_000267.3:c.4769G>A