ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825127835
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2452261
ClinVar RCV Id:
RCV003172355
RCV003459797
RCV003598155
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Val1231Ile
CA398990673
NM_000267.3:c.3691G>A