ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825134460
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
231655
ClinVar RCV Id:
RCV000215281
RCV000230134
RCV002494592
RCV003165564
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Ile2725Met
CA8487780
NM_000267.3:c.8175T>G