ClinGen Allele Registry
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Canonical Allele Identifier:
PA276044
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000190889
RCV000439869
RCV000999745
RCV001027793
RCV001257603
RCV001775095
RCV002273979
RCV002319460
RCV002503749
RCV003468878
RCV004553045
ClinVar Variation:
208853
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Arg1830Cys
CA276040
NM_001042492.3:c.5488C>T