ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA251485
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000000404
ClinVar Variation:
373
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Leu844Arg
CA251482
NM_000267.3:c.2531T>G