ClinGen Allele Registry
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Canonical Allele Identifier:
PA658682592
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
480106
ClinVar RCV Id:
RCV000572639
RCV000681184
RCV000804420
RCV002420548
RCV002476216
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Pro2717Leu
CA8487759
NM_001042492.3:c.8150C>T