ClinGen Allele Registry
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Canonical Allele Identifier:
PA095670
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
39949
ClinVar RCV:
RCV000023983
RCV000059194
RCV000195735
ClinVar Variation:
30992
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Leu1411Phe
CA129599
NM_001042492.3:c.4231C>T