ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825127958
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000547272
RCV002314931
RCV002476108
ClinVar Variation:
457667
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Met1260Val
CA398992568
NM_000267.3:c.3778A>G