ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825125500
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
429019
ClinVar RCV Id:
RCV000492708
RCV000686488
RCV002311259
RCV002475971
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Ala617Thr
CA399005015
NM_000267.3:c.1849G>A