ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA219537
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68338
ClinVar RCV Id:
RCV000059190
RCV000696613
RCV002318950
RCV003338403
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Arg1204Trp
CA219534
NM_000267.3:c.3610C>T