ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA166989
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
41679
ClinVar RCV Id:
RCV000034591
RCV000130727
RCV000501885
RCV000515212
RCV001079427
RCV002415459
RCV004549403
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Tyr2681Phe
CA166986
NM_000267.3:c.8042A>T