ClinGen Allele Registry
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Canonical Allele Identifier:
PA161019
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
138620
ClinVar RCV:
RCV000121628
RCV000129662
RCV000200171
RCV000587577
RCV001124835
RCV001124836
RCV001124837
ClinVar Variation:
134881
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Ser665Phe
CA161015
NM_001042492.3:c.1994C>T