ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891860116
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
579911
ClinVar RCV Id:
RCV000703305
RCV002334369
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Val1554Met
CA399000401
NM_001042492.3:c.4660G>A