ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA193088
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
185829
ClinVar RCV Id:
RCV000165324
RCV000205816
RCV000681126
RCV001002410
RCV002362859
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Thr2222Ala
CA193084
NM_001042492.3:c.6664A>G