ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA129602
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
30992
ClinVar RCV Id:
RCV000023983
RCV000059194
RCV000195735
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Leu1390Phe
CA129599
NM_000267.3:c.4168C>T