ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658682577
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
480169
ClinVar RCV Id:
RCV001040889
RCV002315758
RCV002491121
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Arg2594Cys
CA8487663
NM_001042492.3:c.7780C>T