ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825129744
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
404490
ClinVar RCV Id:
RCV000471442
RCV002318505
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Ala1580Thr
CA8486476
NM_000267.3:c.4738G>A