ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA193087
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_000258.1:p.Thr2201Ala
CA193084
NM_000267.3:c.6601A>G