ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825129086
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
232946
ClinVar RCV Id:
RCV000222235
RCV000632497
RCV000764112
RCV001030575
RCV001731450
RCV002478807
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Ser1449Asn
CA10580315
NM_000267.3:c.4346G>A