ClinGen Allele Registry
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Canonical Allele Identifier:
PA339501
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
213296
ClinVar RCV:
RCV000200710
RCV000575889
RCV000681161
RCV000764116
RCV002317726
RCV003401080
RCV004553095
ClinVar Variation:
216411
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Ile2466Val
CA339497
NM_001042492.3:c.7396A>G