ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825129660
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
457716
ClinVar RCV Id:
RCV000547953
RCV002316507
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Ala1565Ser
CA8486472
NM_000267.3:c.4693G>T