ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA338740
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000199605
RCV002318958
RCV002515460
ClinVar Variation:
215990
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Arg1325Thr
CA338737
NM_000267.3:c.3974G>C