ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645382974
Gene: NF1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001035957.1:p.Trp223Ter
NM_001042492.3:c.668G>A
NM_001042492.3:c.669G>A