ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825127778
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
591153
ClinVar RCV Id:
RCV000722330
RCV001294488
RCV002343592
RCV003460998
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Gly1216Cys
CA398990439
NM_000267.3:c.3646G>T