ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA168916
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142619
ClinVar RCV Id:
RCV000131934
RCV000470005
RCV002483268
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Arg601Trp
CA168912
NM_001042492.3:c.1801C>T