ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139674284
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
858139
ClinVar RCV Id:
RCV001063949
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Asn2387Thr
CA399015726
NM_001042492.3:c.7160A>C