ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825129470
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1048712
ClinVar RCV Id:
RCV001353299
RCV001751691
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Ala1519Glu
CA399000246
NM_000267.3:c.4556C>A