Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA219408

Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 68304

ClinVar RCV Id: RCV000059156 RCV001290895

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000258.1:p.Leu578Arg	CA219405 NM_000267.3:c.1733T>G