ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA219489
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68325
ClinVar RCV Id:
RCV000059177
RCV000226490
RCV002316213
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Arg873Cys
CA219485
NM_001042492.3:c.2617C>T