ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645386247
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000425910
RCV002525376
RCV003470384
ClinVar Variation:
384082
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Arg1204Leu
CA16608393
NM_001042492.3:c.3611G>T