ClinGen Allele Registry
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Canonical Allele Identifier:
PA658801626
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
527517
ClinVar RCV Id:
RCV000632403
RCV001591409
RCV002060718
RCV004547783
RCV002458006
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Met1149Val
CA398989297
NM_001042492.3:c.3445A>G