ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA195493
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
184586
ClinVar RCV:
RCV000166293
RCV000232549
RCV001564267
RCV002426798
ClinVar Variation:
186662
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Asn730Tyr
CA195489
NM_001042492.3:c.2188A>T