ClinGen Allele Registry
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Canonical Allele Identifier:
PA658801626
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
530962
ClinVar RCV:
RCV000632403
RCV001591409
RCV002060718
RCV002458006
RCV004547783
ClinVar Variation:
527517
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Met1149Val
CA398989297
NM_001042492.3:c.3445A>G