ClinGen Allele Registry
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Canonical Allele Identifier:
PA164289
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000034587
RCV000129366
RCV000214790
RCV001082296
RCV001122580
RCV001122581
RCV001122582
RCV002362613
RCV003233080
RCV004549402
ClinVar Variation:
41675
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Pro2310Leu
CA164285
NM_001042492.3:c.6929C>T