ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA356244
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
222627
ClinVar RCV:
RCV000206473
RCV000571459
RCV002317733
RCV002503803
RCV003237766
ClinVar Variation:
219867
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Asn2331Ser
CA350500
NM_000267.3:c.6992A>G