ClinGen Allele Registry
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Canonical Allele Identifier:
PA166293
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
151461
ClinVar RCV:
RCV000130378
RCV000206873
RCV000680625
RCV000764108
RCV002453461
RCV003330502
ClinVar Variation:
141747
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Ala1202Ser
CA166289
NM_001042492.3:c.3604G>T