ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA195065
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
184730
ClinVar RCV:
RCV000166122
RCV000472540
RCV001582655
RCV002372050
RCV002505211
ClinVar Variation:
186514
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Thr2201Met
CA195062
NM_000267.3:c.6602C>T