ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA325502
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
354
ClinVar RCV Id:
RCV000000382
RCV000492667
RCV000757556
RCV001009573
RCV001257527
RCV001813925
RCV002504731
RCV003460400
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Tyr489Cys
CA325499
NM_000267.3:c.1466A>G