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: PA645388257

Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426216

ClinVar RCV Id: RCV000489937 RCV001290811

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001035957.1:p.Ala2441del	CA645293902 NM_001042492.3:c.7319_7321del