ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA192904
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000165261
RCV000205468
RCV000428670
RCV000515307
RCV000680330
RCV001122259
RCV001122260
RCV001122261
RCV002362857
ClinVar Variation:
185777
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Thr1295Ala
CA192901
NM_000267.3:c.3883A>G