ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645384093
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
431976
ClinVar RCV Id:
RCV000497645
RCV000538065
RCV000626735
RCV000574543
RCV002404301
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Ser574Asn
CA399002388
NM_001042492.3:c.1721G>A