ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825131658
Gene: NF1
HGNC
NCBI
Linked Data - Other
Linked-Data Service Error:
Error
Failed to retrieve aggregated linked-data
Status
NodeJS Error object: timeout of 3500ms exceeded
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Tyr1927His
CA399010617
NM_000267.3:c.5779T>C