ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096163
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
354
ClinVar RCV Id:
RCV000000382
RCV000492667
RCV000757556
RCV001009573
RCV001257527
RCV001813925
RCV002504731
RCV003460400
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Tyr489Cys
CA325499
NM_001042492.3:c.1466A>G