ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA219638
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68362
ClinVar RCV Id:
RCV000059216
RCV001337282
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Glu2336Lys
CA219635
NM_000267.3:c.7006G>A