ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915969046
Gene: NF1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121619.1:p.His130Leu
CA10580189
NM_001128147.3:c.389A>T