ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA169452
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142804
ClinVar RCV Id:
RCV000132225
RCV000168027
RCV000484858
RCV000515448
RCV001128219
RCV001128218
RCV001128217
RCV002345446
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Ser1838Cys
CA169448
NM_001042492.3:c.5513C>G