ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825128326
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
1369099
ClinVar RCV:
RCV001991325
RCV002370681
ClinVar Variation:
1495315
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Ser1329Leu
CA398994829
NM_000267.3:c.3986C>T