ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825124988
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
819236
ClinVar RCV Id:
RCV002319151
RCV002550770
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Thr482Ile
CA289356775
NM_000267.3:c.1445C>T