ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825123641
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000213670
RCV001042725
RCV003165573
ClinVar Variation:
232575
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Asn184Ser
CA10580194
NM_000267.3:c.551A>G