ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA191447
Gene: NF1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Arg2258Gln
CA191443
NM_001042492.3:c.6773G>A