ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645387346
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000492200
RCV000632446
RCV000680829
RCV002063855
RCV002341164
ClinVar Variation:
428982
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Lys1771Glu
CA399009069
NM_001042492.3:c.5311A>G