ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658832017
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
561686
ClinVar RCV Id:
RCV000681042
RCV002369813
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Ile2264Val
CA399014161
NM_001042492.3:c.6790A>G