ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645387209
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
233847
ClinVar RCV Id:
RCV000221420
RCV000681085
RCV000546921
RCV003114391
RCV002327095
RCV003387812
RCV004547559
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Thr1648Ile
CA8487120
NM_001042492.3:c.4943C>T