ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825125380
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
485956
ClinVar RCV Id:
RCV001064262
RCV002315842
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Leu578Pro
CA399004013
NM_000267.3:c.1733T>C