ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645387963
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
402363
ClinVar RCV:
RCV000463991
ClinVar Variation:
404556
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Lys2273Met
CA16615576
NM_001042492.3:c.6818A>T