ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA195526
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186672
ClinVar RCV Id:
RCV000166305
RCV000476769
RCV001582656
RCV002498823
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Thr2335Ala
CA195522
NM_001042492.3:c.7003A>G