ClinGen Allele Registry
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Canonical Allele Identifier:
PA658682210
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
457581
ClinVar RCV Id:
RCV000553902
RCV000681848
RCV002448633
RCV002497068
RCV003459191
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Thr780Arg
CA398983055
NM_001042492.3:c.2339C>G