ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA219480
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68323
ClinVar RCV Id:
RCV000059175
RCV000205919
RCV000492608
RCV000507716
RCV000845192
RCV002054910
RCV003162464
RCV002453378
RCV003460651
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Leu847Pro
CA219477
NM_000267.3:c.2540T>C