ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA166293
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141747
ClinVar RCV Id:
RCV000130378
RCV000680625
RCV000206873
RCV002453461
RCV000764108
RCV003330502
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Ala1202Ser
CA166289
NM_001042492.3:c.3604G>T