ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825129089
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
235690
ClinVar RCV:
RCV000218457
RCV000706280
RCV001762468
RCV002503866
RCV003468987
ClinVar Variation:
229884
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Asn1450Ser
CA10580316
NM_000267.3:c.4349A>G