ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA195525
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186672
ClinVar RCV Id:
RCV000166305
RCV000476769
RCV001582656
RCV002498823
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Thr2314Ala
CA195522
NM_000267.3:c.6940A>G