ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825131641
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1007597
ClinVar RCV Id:
RCV001304804
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Leu1923Pro
CA399010592
NM_000267.3:c.5768T>C