ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA197960
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187560
ClinVar RCV Id:
RCV000167299
RCV000793704
RCV001824127
RCV002510804
RCV003462239
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Thr1923Met
CA197956
NM_001042492.3:c.5768C>T