ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580143655
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1742570
ClinVar RCV Id:
RCV002335325
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Leu1590Ser
CA399001248
NM_001042492.3:c.4769T>C