ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825126433
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
1012660
ClinVar RCV:
RCV001320199
ClinVar Variation:
1020598
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Cys845Phe
CA398984217
NM_000267.3:c.2534G>T