ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645388365
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
229064
ClinVar RCV Id:
RCV000216591
RCV000217787
RCV000693913
RCV001778803
RCV002500714
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.His2480Arg
CA8487571
NM_001042492.3:c.7439A>G