ClinGen Allele Registry
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Canonical Allele Identifier:
PA645387207
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000219524
RCV000469644
RCV001030577
RCV001567513
RCV002338691
ClinVar Variation:
231988
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Thr1648Ala
CA8487119
NM_001042492.3:c.4942A>G