ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA161009
Gene: NF1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Glu517Lys
CA161005
NM_001042492.3:c.1549G>A