ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA193350
Gene: NF1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Gln1948Leu
CA193347
NM_000267.3:c.5843A>T