ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA276049
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
208854
ClinVar RCV Id:
RCV000190890
RCV000762992
RCV001589057
RCV002311032
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Arg1830Leu
CA276045
NM_001042492.3:c.5489G>T