ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096066
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141844
ClinVar RCV Id:
RCV000130522
RCV000421743
RCV000475666
RCV000764117
RCV001818315
RCV002381447
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Thr2507Ile
CA166586
NM_001042492.3:c.7520C>T