ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645385218
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000476269
ClinVar Variation:
404431
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Cys845Arg
CA16615181
NM_001042492.3:c.2533T>C