ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499236226
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1066896
ClinVar RCV Id:
RCV001378015
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Ala1596Pro
CA399001290
NM_001042492.3:c.4786G>C