ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096060
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68320
ClinVar RCV Id:
RCV000059172
RCV000659959
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Ser82Phe
CA219465
NM_001042492.3:c.245C>T