ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA194031
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186162
ClinVar RCV Id:
RCV000165705
RCV000196434
RCV000515215
RCV001818383
RCV001548376
RCV003162703
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Ile2384Val
CA194028
NM_000267.3:c.7150A>G