ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645387892
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
231810
ClinVar RCV Id:
RCV000219416
RCV001318207
RCV004547545
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Ile2267Met
CA10580390
NM_001042492.3:c.6801A>G