ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA095855
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
79212
ClinVar RCV:
RCV000059173
RCV000571726
RCV000632503
RCV002453377
ClinVar Variation:
68321
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Leu844Phe
CA219469
NM_001042492.3:c.2530C>T