ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA193879
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186105
ClinVar RCV Id:
RCV000165635
RCV000534740
RCV002478510
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Val34Ile
CA193875
NM_001042492.3:c.100G>A