ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825130038
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_000258.1:p.Thr1627Ala
CA8487119
NM_000267.3:c.4879A>G