ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658682605
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
457872
ClinVar RCV Id:
RCV000543184
RCV000679419
RCV002316525
RCV002483373
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Ser2819Asn
CA289712495
NM_001042492.3:c.8456G>A