ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741835642
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3019509
ClinVar RCV Id:
RCV003874620
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121619.1:p.Tyr579Cys
CA399002427
NM_001128147.3:c.1736A>G