ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA195066
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186514
ClinVar RCV Id:
RCV000166122
RCV000472540
RCV001582655
RCV002372050
RCV002505211
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Thr2222Met
CA195062
NM_001042492.3:c.6665C>T