ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA251476
Gene: NF1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000258.1:p.Leu1243Pro
NM_000267.3:c.3728T>C