ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645384740
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
232635
ClinVar RCV Id:
RCV000220091
RCV000465439
RCV001775692
RCV002415909
RCV002500735
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Arg720Trp
CA8485918
NM_001042492.3:c.2158C>T