ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA165113
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000129797
RCV000205307
RCV000680997
RCV001818305
RCV002326843
RCV003483497
ClinVar Variation:
141323
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Arg1509His
CA165109
NM_001042492.3:c.4526G>A