ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741829648
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2736516
ClinVar RCV Id:
RCV003494709
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Ser574Thr
CA399002389
NM_001042492.3:c.1721G>C