ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825130039
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000221420
RCV000546921
RCV000681085
RCV002327095
RCV003114391
RCV003387812
RCV004547559
ClinVar Variation:
233847
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Thr1627Ile
CA8487120
NM_000267.3:c.4880C>T