ClinGen Allele Registry
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Canonical Allele Identifier:
PA335715
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
216405
ClinVar RCV Id:
RCV000195487
RCV000213390
RCV000679395
RCV000764113
RCV003165467
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Thr1589Met
CA335711
NM_001042492.3:c.4766C>T