ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA348020
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
220184
ClinVar RCV Id:
RCV000203720
RCV000571589
RCV000764115
RCV000681043
RCV002317738
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Arg2452Cys
CA348018
NM_001042492.3:c.7354C>T